Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030405C>A , CM000685.2:g.154030405C>A	GRCh38
NC_000023.10:g.153295856C>A , CM000685.1:g.153295856C>A	GRCh37
NC_000023.9:g.152949050C>A	NCBI36
NG_007107.2:g.111723G>T
NG_007107.3:g.111699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1423G>T MANE Plus Clinical	ENSP00000301948.6:p.Val475Leu
ENST00000453960.7:c.1459G>T MANE Select	ENSP00000395535.2:p.Val487Leu
ENST00000303391.10:c.1423G>T	ENSP00000301948.6:p.Val475Leu
ENST00000453960.6:c.1459G>T	ENSP00000395535.2:p.Val487Leu
ENST00000619732.4:c.1423G>T	ENSP00000480973.1:p.Val475Leu
ENST00000628176.2:c.*795G>T	ENSP00000486978.1:n.*795G>T
NM_001110792.1:c.1459G>T	NP_001104262.1:p.Val487Leu
NM_001316337.1:c.1144G>T	NP_001303266.1:p.Val382Leu
NM_004992.3:c.1423G>T	NP_004983.1:p.Val475Leu
XM_005274681.3:c.1423G>T	XP_005274738.1:p.Val475Leu
XM_005274682.3:c.1144G>T	XP_005274739.1:p.Val382Leu
XM_005274683.3:c.1144G>T	XP_005274740.1:p.Val382Leu
XM_006724819.2:c.754G>T	XP_006724882.1:p.Val252Leu
XM_011531166.1:c.1144G>T	XP_011529468.1:p.Val382Leu
XM_006724819.3:c.754G>T	XP_006724882.1:p.Val252Leu
XM_011531166.2:c.1144G>T	XP_011529468.1:p.Val382Leu
XM_024452383.1:c.1144G>T	XP_024308151.1:p.Val382Leu
XM_024452384.1:c.1144G>T	XP_024308152.1:p.Val382Leu
NM_001110792.2:c.1459G>T MANE Select	NP_001104262.1:p.Val487Leu
NM_001316337.2:c.1144G>T	NP_001303266.1:p.Val382Leu
NM_001369391.2:c.1144G>T	NP_001356320.1:p.Val382Leu
NM_001369392.2:c.1144G>T	NP_001356321.1:p.Val382Leu
NM_001369393.2:c.1144G>T	NP_001356322.1:p.Val382Leu
NM_001369394.1:c.1144G>T	NP_001356323.1:p.Val382Leu
NM_001369394.2:c.1144G>T	NP_001356323.1:p.Val382Leu
NM_001386137.1:c.754G>T	NP_001373066.1:p.Val252Leu
NM_001386138.1:c.754G>T	NP_001373067.1:p.Val252Leu
NM_001386139.1:c.754G>T	NP_001373068.1:p.Val252Leu
NM_004992.4:c.1423G>T MANE Plus Clinical	NP_004983.1:p.Val475Leu

Linked Data

Genomic Alleles

Transcript Alleles