Canonical Allele Identifier: CA246490378

Gene: CRYL1

Linked Data

• dbSNP Id: rs979763944
• gnomAD v3: 13-20476346-C-T
• gnomAD v4: 13-20476346-C-T
• MyVariant Identifiers: chr13:g.21050485C>T (hg19) ; chr13:g.20476346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20476346C>T , CM000675.2:g.20476346C>T	GRCh38
NC_000013.10:g.21050485C>T , CM000675.1:g.21050485C>T	GRCh37
NC_000013.9:g.19948485C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298248.12:c.276+13024G>A MANE Select	ENSP00000298248.7:n.276+13024G>A
ENST00000643035.1:c.*77+525G>A	ENSP00000496154.1:n.*77+525G>A
ENST00000643750.1:c.210+13024G>A	ENSP00000493818.1:n.210+13024G>A
ENST00000643887.1:c.276+13024G>A	ENSP00000495342.1:n.276+13024G>A
ENST00000644153.1:c.277-3272G>A	ENSP00000494794.1:n.277-3272G>A
ENST00000644167.1:c.276+13024G>A	ENSP00000494114.1:n.276+13024G>A
ENST00000644593.1:c.276+13024G>A	ENSP00000493784.1:n.276+13024G>A
ENST00000644872.1:n.233+13024G>A
ENST00000298248.11:c.276+13024G>A	ENSP00000298248.7:n.276+13024G>A
ENST00000382812.5:c.210+13024G>A	ENSP00000372262.1:n.210+13024G>A
ENST00000480748.2:c.67+13024G>A
NM_015974.2:c.276+13024G>A	NP_057058.2:n.276+13024G>A
XM_005266415.2:c.276+13024G>A	XP_005266472.1:n.276+13024G>A
XM_005266416.3:c.276+13024G>A	XP_005266473.1:n.276+13024G>A
XM_011535100.1:c.276+13024G>A	XP_011533402.1:n.276+13024G>A
XM_011535101.1:c.276+13024G>A	XP_011533403.1:n.276+13024G>A
NM_001363647.1:c.276+13024G>A	NP_001350576.1:n.276+13024G>A
XM_005266416.5:c.276+13024G>A	XP_005266473.1:n.276+13024G>A
XM_017020624.1:c.-88-3272G>A	XP_016876113.1:n.-88-3272G>A
NM_015974.3:c.276+13024G>A MANE Select	NP_057058.2:n.276+13024G>A
NM_001363647.2:c.276+13024G>A	NP_001350576.1:n.276+13024G>A