Canonical Allele Identifier: CA498430532
Gene: MYO15A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18049362G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146048G>C , CM000679.2:g.18146048G>C GRCh38
NC_000017.10:g.18049362G>C , CM000679.1:g.18049362G>C GRCh37
NC_000017.9:g.17990087G>C NCBI36
NG_011634.1:g.42343G>C
NG_011634.2:g.42343G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6450G>C MANE Select ENSP00000495481.1:p.Leu2150=
ENST00000205890.9:c.6450G>C ENSP00000205890.5:p.Leu2150=
ENST00000578999.1:n.35G>C
ENST00000615845.4:c.6450G>C ENSP00000481642.1:p.Leu2150=
NM_016239.3:c.6450G>C NP_057323.3:p.Leu2150=
XM_011523917.1:c.6390G>C XP_011522219.1:p.Leu2130=
XM_011523918.1:c.6342+48G>C XP_011522220.1:n.6342+48G>C
XM_011523921.1:c.6444G>C XP_011522223.1:p.Leu2148=
XR_934037.1:n.7049G>C
XR_934038.1:n.7049G>C
XM_011523918.2:c.6342+48G>C XP_011522220.1:n.6342+48G>C
XM_017024714.2:c.6390G>C XP_016880203.1:p.Leu2130=
XM_017024715.2:c.6453G>C XP_016880204.1:p.Leu2151=
XM_024450781.1:c.6213+1456G>C XP_024306549.1:n.6213+1456G>C
NM_016239.4:c.6450G>C MANE Select NP_057323.3:p.Leu2150=