Canonical Allele Identifier: CA344037114

Gene: CRB1

Linked Data

• COSMIC: COSM4480136 ; COSM4480137
• MyVariant Identifiers: chr1:g.197396845C>T (hg19) ; chr1:g.197427715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427715C>T , CM000663.2:g.197427715C>T	GRCh38
NC_000001.10:g.197396845C>T , CM000663.1:g.197396845C>T	GRCh37
NC_000001.9:g.195663468C>T	NCBI36
NG_008483.1:g.164438C>T
NG_008483.2:g.231254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2390C>T MANE Select	ENSP00000356370.3:p.Ser797Phe
ENST00000638467.1:c.2390C>T	ENSP00000491102.1:p.Ser797Phe
ENST00000681519.1:c.1271C>T	ENSP00000505267.1:p.Ser424Phe
ENST00000367397.1:c.533C>T	ENSP00000356367.1:p.Ser178Phe
ENST00000367399.6:c.2054C>T	ENSP00000356369.2:p.Ser685Phe
ENST00000367400.7:c.2390C>T	ENSP00000356370.3:p.Ser797Phe
ENST00000480086.2:n.291C>T
ENST00000484075.5:c.2390C>T	ENSP00000433932.1:p.Ser797Phe
ENST00000535699.5:c.2183C>T	ENSP00000438786.1:p.Ser728Phe
ENST00000538660.5:c.2128+5759C>T	ENSP00000438091.1:n.2128+5759C>T
NM_001193640.1:c.2054C>T	NP_001180569.1:p.Ser685Phe
NM_001257965.1:c.2183C>T	NP_001244894.1:p.Ser728Phe
NM_001257966.1:c.2128+5759C>T	NP_001244895.1:n.2128+5759C>T
NM_201253.2:c.2390C>T	NP_957705.1:p.Ser797Phe
NR_047563.1:n.2391C>T
NR_047564.1:n.2599C>T
XM_011509365.1:c.2390C>T	XP_011507667.1:p.Ser797Phe
XM_011509366.1:c.2390C>T	XP_011507668.1:p.Ser797Phe
XM_011509367.1:c.2390C>T	XP_011507669.1:p.Ser797Phe
XM_011509368.1:c.1808C>T	XP_011507670.1:p.Ser603Phe
XM_011509369.1:c.833C>T	XP_011507671.1:p.Ser278Phe
XM_011509365.2:c.2390C>T	XP_011507667.1:p.Ser797Phe
XM_011509369.2:c.833C>T	XP_011507671.1:p.Ser278Phe
XM_017000851.1:c.1547C>T	XP_016856340.1:p.Ser516Phe
XM_017000852.1:c.2390C>T	XP_016856341.1:p.Ser797Phe
NM_201253.3:c.2390C>T MANE Select	NP_957705.1:p.Ser797Phe
NM_001193640.2:c.2054C>T	NP_001180569.1:p.Ser685Phe
NM_001257965.2:c.2183C>T	NP_001244894.1:p.Ser728Phe
NR_047563.2:n.2343C>T
NR_047564.2:n.2551C>T
NM_001257966.2:c.2128+5759C>T	NP_001244895.1:n.2128+5759C>T