Canonical Allele Identifier: CA246490073

Gene: CRYL1

Linked Data

• dbSNP Id: rs4770049
• gnomAD v2: 13-21093604-C-T
• gnomAD v3: 13-20519465-C-T
• gnomAD v4: 13-20519465-C-T
• MyVariant Identifiers: chr13:g.21093604C>T (hg19) ; chr13:g.20519465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20519465C>T , CM000675.2:g.20519465C>T	GRCh38
NC_000013.10:g.21093604C>T , CM000675.1:g.21093604C>T	GRCh37
NC_000013.9:g.19991604C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000298248.12:c.41+6289G>A MANE Select	ENSP00000298248.7:n.41+6289G>A
ENST00000643035.1:c.41+6289G>A	ENSP00000496154.1:n.41+6289G>A
ENST00000643750.1:c.-256-5784G>A	ENSP00000493818.1:n.-256-5784G>A
ENST00000643887.1:c.41+6289G>A	ENSP00000495342.1:n.41+6289G>A
ENST00000644153.1:c.41+6289G>A	ENSP00000494794.1:n.41+6289G>A
ENST00000644167.1:c.41+6289G>A	ENSP00000494114.1:n.41+6289G>A
ENST00000644593.1:c.41+6289G>A	ENSP00000493784.1:n.41+6289G>A
ENST00000646414.1:c.42-3645G>A	ENSP00000495054.1:n.42-3645G>A
ENST00000298248.11:c.41+6289G>A	ENSP00000298248.7:n.41+6289G>A
ENST00000382812.5:c.-125-3645G>A	ENSP00000372262.1:n.-125-3645G>A
NM_015974.2:c.41+6289G>A	NP_057058.2:n.41+6289G>A
XM_005266415.2:c.41+6289G>A	XP_005266472.1:n.41+6289G>A
XM_005266416.3:c.41+6289G>A	XP_005266473.1:n.41+6289G>A
XM_011535100.1:c.41+6289G>A	XP_011533402.1:n.41+6289G>A
XM_011535101.1:c.41+6289G>A	XP_011533403.1:n.41+6289G>A
NM_001363647.1:c.41+6289G>A	NP_001350576.1:n.41+6289G>A
XM_005266416.5:c.41+6289G>A	XP_005266473.1:n.41+6289G>A
XM_017020624.1:c.-324+6289G>A	XP_016876113.1:n.-324+6289G>A
NM_015974.3:c.41+6289G>A MANE Select	NP_057058.2:n.41+6289G>A
NM_001363647.2:c.41+6289G>A	NP_001350576.1:n.41+6289G>A