Canonical Allele Identifier: CA16043804

Gene: CRB1

Linked Data

• ClinVar Variation Id: 374588
• ClinVar RCV Id: RCV000416024 ; RCV001199671
• dbSNP Id: rs1057519162
• MyVariant Identifiers: chr1:g.197390808C>A (hg19) ; chr1:g.197421678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421678C>A , CM000663.2:g.197421678C>A	GRCh38
NC_000001.10:g.197390808C>A , CM000663.1:g.197390808C>A	GRCh37
NC_000001.9:g.195657431C>A	NCBI36
NG_008483.1:g.158401C>A
NG_008483.2:g.225217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1850C>A MANE Select	ENSP00000356370.3:p.Pro617Gln
ENST00000638467.1:c.1850C>A	ENSP00000491102.1:p.Pro617Gln
ENST00000681519.1:c.731C>A	ENSP00000505267.1:p.Pro244Gln
ENST00000367397.1:c.-8C>A	ENSP00000356367.1:n.-8C>A
ENST00000367399.6:c.1514C>A	ENSP00000356369.2:p.Pro505Gln
ENST00000367400.7:c.1850C>A	ENSP00000356370.3:p.Pro617Gln
ENST00000484075.5:c.1850C>A	ENSP00000433932.1:p.Pro617Gln
ENST00000535699.5:c.1643C>A	ENSP00000438786.1:p.Pro548Gln
ENST00000538660.5:c.1850C>A	ENSP00000438091.1:p.Pro617Gln
NM_001193640.1:c.1514C>A	NP_001180569.1:p.Pro505Gln
NM_001257965.1:c.1643C>A	NP_001244894.1:p.Pro548Gln
NM_001257966.1:c.1850C>A	NP_001244895.1:p.Pro617Gln
NM_201253.2:c.1850C>A	NP_957705.1:p.Pro617Gln
NR_047563.1:n.1923-72C>A
NR_047564.1:n.2059C>A
XM_011509365.1:c.1850C>A	XP_011507667.1:p.Pro617Gln
XM_011509366.1:c.1850C>A	XP_011507668.1:p.Pro617Gln
XM_011509367.1:c.1850C>A	XP_011507669.1:p.Pro617Gln
XM_011509368.1:c.1268C>A	XP_011507670.1:p.Pro423Gln
XM_011509369.1:c.293C>A	XP_011507671.1:p.Pro98Gln
XM_011509365.2:c.1850C>A	XP_011507667.1:p.Pro617Gln
XM_011509369.2:c.293C>A	XP_011507671.1:p.Pro98Gln
XM_017000851.1:c.1007C>A	XP_016856340.1:p.Pro336Gln
XM_017000852.1:c.1850C>A	XP_016856341.1:p.Pro617Gln
NM_201253.3:c.1850C>A MANE Select	NP_957705.1:p.Pro617Gln
NM_001193640.2:c.1514C>A	NP_001180569.1:p.Pro505Gln
NM_001257965.2:c.1643C>A	NP_001244894.1:p.Pro548Gln
NR_047563.2:n.1875-72C>A
NR_047564.2:n.2011C>A
NM_001257966.2:c.1850C>A	NP_001244895.1:p.Pro617Gln