Canonical Allele Identifier: CA395060442
Gene: CRYM HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21270102T>G (hg19) chr16:g.21258781T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21258781T>G , CM000678.2:g.21258781T>G GRCh38
NC_000016.9:g.21270102T>G , CM000678.1:g.21270102T>G GRCh37
NC_000016.8:g.21177603T>G NCBI36
NG_011610.1:g.49316A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219599.8:c.945A>C ENSP00000219599.3:p.Ter315Tyr
ENST00000572914.2:c.945A>C MANE Select ENSP00000461904.2:p.Ter315Tyr
ENST00000219599.7:c.945A>C ENSP00000219599.3:p.Ter315Tyr
ENST00000543948.5:c.945A>C ENSP00000440227.1:p.Ter315Tyr
ENST00000570401.5:c.264+8A>C
ENST00000574448.5:c.*520+2473A>C ENSP00000459982.1:n.*520+2473A>C
NM_001888.4:c.945A>C NP_001879.1:p.Ter315Tyr
XM_011545740.1:c.945A>C XP_011544042.1:p.Ter315Tyr
XR_950904.1:n.735+3988T>G
XM_024450157.1:c.945A>C XP_024305925.1:p.Ter315Tyr
NM_001888.5:c.945A>C NP_001879.1:p.Ter315Tyr
NM_001376256.1:c.945A>C MANE Select NP_001363185.1:p.Ter315Tyr
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