Canonical Allele Identifier: CA246490397

Gene: CRYL1

Linked Data

• dbSNP Id: rs935183783
• gnomAD v2: 13-21050549-G-A
• gnomAD v3: 13-20476410-G-A
• gnomAD v4: 13-20476410-G-A
• MyVariant Identifiers: chr13:g.21050549G>A (hg19) ; chr13:g.20476410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20476410G>A , CM000675.2:g.20476410G>A	GRCh38
NC_000013.10:g.21050549G>A , CM000675.1:g.21050549G>A	GRCh37
NC_000013.9:g.19948549G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298248.12:c.276+12960C>T MANE Select	ENSP00000298248.7:n.276+12960C>T
ENST00000643035.1:c.*77+461C>T	ENSP00000496154.1:n.*77+461C>T
ENST00000643750.1:c.210+12960C>T	ENSP00000493818.1:n.210+12960C>T
ENST00000643887.1:c.276+12960C>T	ENSP00000495342.1:n.276+12960C>T
ENST00000644153.1:c.277-3336C>T	ENSP00000494794.1:n.277-3336C>T
ENST00000644167.1:c.276+12960C>T	ENSP00000494114.1:n.276+12960C>T
ENST00000644593.1:c.276+12960C>T	ENSP00000493784.1:n.276+12960C>T
ENST00000644872.1:n.233+12960C>T
ENST00000298248.11:c.276+12960C>T	ENSP00000298248.7:n.276+12960C>T
ENST00000382812.5:c.210+12960C>T	ENSP00000372262.1:n.210+12960C>T
ENST00000480748.2:c.67+12960C>T
NM_015974.2:c.276+12960C>T	NP_057058.2:n.276+12960C>T
XM_005266415.2:c.276+12960C>T	XP_005266472.1:n.276+12960C>T
XM_005266416.3:c.276+12960C>T	XP_005266473.1:n.276+12960C>T
XM_011535100.1:c.276+12960C>T	XP_011533402.1:n.276+12960C>T
XM_011535101.1:c.276+12960C>T	XP_011533403.1:n.276+12960C>T
NM_001363647.1:c.276+12960C>T	NP_001350576.1:n.276+12960C>T
XM_005266416.5:c.276+12960C>T	XP_005266473.1:n.276+12960C>T
XM_017020624.1:c.-88-3336C>T	XP_016876113.1:n.-88-3336C>T
NM_015974.3:c.276+12960C>T MANE Select	NP_057058.2:n.276+12960C>T
NM_001363647.2:c.276+12960C>T	NP_001350576.1:n.276+12960C>T