Canonical Allele Identifier: CA344032886

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1022330
• ClinVar RCV Id: RCV001322219 ; RCV001760407 ; RCV003449921 ; RCV003449922 ; RCV003449923
• dbSNP Id: rs1238001290
• gnomAD v2: 1-197390868-C-T
• MyVariant Identifiers: chr1:g.197390868C>T (hg19) ; chr1:g.197421738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421738C>T , CM000663.2:g.197421738C>T	GRCh38
NC_000001.10:g.197390868C>T , CM000663.1:g.197390868C>T	GRCh37
NC_000001.9:g.195657491C>T	NCBI36
NG_008483.1:g.158461C>T
NG_008483.2:g.225277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1910C>T MANE Select	ENSP00000356370.3:p.Pro637Leu
ENST00000638467.1:c.1910C>T	ENSP00000491102.1:p.Pro637Leu
ENST00000681519.1:c.791C>T	ENSP00000505267.1:p.Pro264Leu
ENST00000367397.1:c.53C>T	ENSP00000356367.1:p.Pro18Leu
ENST00000367399.6:c.1574C>T	ENSP00000356369.2:p.Pro525Leu
ENST00000367400.7:c.1910C>T	ENSP00000356370.3:p.Pro637Leu
ENST00000484075.5:c.1910C>T	ENSP00000433932.1:p.Pro637Leu
ENST00000535699.5:c.1703C>T	ENSP00000438786.1:p.Pro568Leu
ENST00000538660.5:c.1910C>T	ENSP00000438091.1:p.Pro637Leu
NM_001193640.1:c.1574C>T	NP_001180569.1:p.Pro525Leu
NM_001257965.1:c.1703C>T	NP_001244894.1:p.Pro568Leu
NM_001257966.1:c.1910C>T	NP_001244895.1:p.Pro637Leu
NM_201253.2:c.1910C>T	NP_957705.1:p.Pro637Leu
NR_047563.1:n.1923-12C>T
NR_047564.1:n.2119C>T
XM_011509365.1:c.1910C>T	XP_011507667.1:p.Pro637Leu
XM_011509366.1:c.1910C>T	XP_011507668.1:p.Pro637Leu
XM_011509367.1:c.1910C>T	XP_011507669.1:p.Pro637Leu
XM_011509368.1:c.1328C>T	XP_011507670.1:p.Pro443Leu
XM_011509369.1:c.353C>T	XP_011507671.1:p.Pro118Leu
XM_011509365.2:c.1910C>T	XP_011507667.1:p.Pro637Leu
XM_011509369.2:c.353C>T	XP_011507671.1:p.Pro118Leu
XM_017000851.1:c.1067C>T	XP_016856340.1:p.Pro356Leu
XM_017000852.1:c.1910C>T	XP_016856341.1:p.Pro637Leu
NM_201253.3:c.1910C>T MANE Select	NP_957705.1:p.Pro637Leu
NM_001193640.2:c.1574C>T	NP_001180569.1:p.Pro525Leu
NM_001257965.2:c.1703C>T	NP_001244894.1:p.Pro568Leu
NR_047563.2:n.1875-12C>T
NR_047564.2:n.2071C>T
NM_001257966.2:c.1910C>T	NP_001244895.1:p.Pro637Leu