Canonical Allele Identifier: CA2077292325
Gene: CRYL1 HGNC NCBI

Linked Data

dbSNP Id: rs7989332

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20476436A>G , CM000675.2:g.20476436A>G GRCh38
NC_000013.10:g.21050575A>G , CM000675.1:g.21050575A>G GRCh37
NC_000013.9:g.19948575A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000298248.12:c.276+12934T>C MANE Select ENSP00000298248.7:n.276+12934T>C
ENST00000643035.1:c.*77+435T>C ENSP00000496154.1:n.*77+435T>C
ENST00000643750.1:c.210+12934T>C ENSP00000493818.1:n.210+12934T>C
ENST00000643887.1:c.276+12934T>C ENSP00000495342.1:n.276+12934T>C
ENST00000644153.1:c.277-3362T>C ENSP00000494794.1:n.277-3362T>C
ENST00000644167.1:c.276+12934T>C ENSP00000494114.1:n.276+12934T>C
ENST00000644593.1:c.276+12934T>C ENSP00000493784.1:n.276+12934T>C
ENST00000644872.1:n.233+12934T>C
ENST00000298248.11:c.276+12934T>C ENSP00000298248.7:n.276+12934T>C
ENST00000382812.5:c.210+12934T>C ENSP00000372262.1:n.210+12934T>C
ENST00000480748.2:c.67+12934T>C
NM_015974.2:c.276+12934T>C NP_057058.2:n.276+12934T>C
XM_005266415.2:c.276+12934T>C XP_005266472.1:n.276+12934T>C
XM_005266416.3:c.276+12934T>C XP_005266473.1:n.276+12934T>C
XM_011535100.1:c.276+12934T>C XP_011533402.1:n.276+12934T>C
XM_011535101.1:c.276+12934T>C XP_011533403.1:n.276+12934T>C
NM_001363647.1:c.276+12934T>C NP_001350576.1:n.276+12934T>C
XM_005266416.5:c.276+12934T>C XP_005266473.1:n.276+12934T>C
XM_017020624.1:c.-88-3362T>C XP_016876113.1:n.-88-3362T>C
NM_015974.3:c.276+12934T>C MANE Select NP_057058.2:n.276+12934T>C
NM_001363647.2:c.276+12934T>C NP_001350576.1:n.276+12934T>C