Canonical Allele Identifier: CA344037717

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396940G>T (hg19) ; chr1:g.197427810G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427810G>T , CM000663.2:g.197427810G>T	GRCh38
NC_000001.10:g.197396940G>T , CM000663.1:g.197396940G>T	GRCh37
NC_000001.9:g.195663563G>T	NCBI36
NG_008483.1:g.164533G>T
NG_008483.2:g.231349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2485G>T MANE Select	ENSP00000356370.3:p.Val829Phe
ENST00000638467.1:c.2485G>T	ENSP00000491102.1:p.Val829Phe
ENST00000681519.1:c.1366G>T	ENSP00000505267.1:p.Val456Phe
ENST00000367397.1:c.628G>T	ENSP00000356367.1:p.Val210Phe
ENST00000367399.6:c.2149G>T	ENSP00000356369.2:p.Val717Phe
ENST00000367400.7:c.2485G>T	ENSP00000356370.3:p.Val829Phe
ENST00000480086.2:n.386G>T
ENST00000484075.5:c.2485G>T	ENSP00000433932.1:p.Val829Phe
ENST00000535699.5:c.2278G>T	ENSP00000438786.1:p.Val760Phe
ENST00000538660.5:c.2128+5854G>T	ENSP00000438091.1:n.2128+5854G>T
NM_001193640.1:c.2149G>T	NP_001180569.1:p.Val717Phe
NM_001257965.1:c.2278G>T	NP_001244894.1:p.Val760Phe
NM_001257966.1:c.2128+5854G>T	NP_001244895.1:n.2128+5854G>T
NM_201253.2:c.2485G>T	NP_957705.1:p.Val829Phe
NR_047563.1:n.2486G>T
NR_047564.1:n.2694G>T
XM_011509365.1:c.2485G>T	XP_011507667.1:p.Val829Phe
XM_011509366.1:c.2485G>T	XP_011507668.1:p.Val829Phe
XM_011509367.1:c.2485G>T	XP_011507669.1:p.Val829Phe
XM_011509368.1:c.1903G>T	XP_011507670.1:p.Val635Phe
XM_011509369.1:c.928G>T	XP_011507671.1:p.Val310Phe
XM_011509365.2:c.2485G>T	XP_011507667.1:p.Val829Phe
XM_011509369.2:c.928G>T	XP_011507671.1:p.Val310Phe
XM_017000851.1:c.1642G>T	XP_016856340.1:p.Val548Phe
XM_017000852.1:c.2485G>T	XP_016856341.1:p.Val829Phe
NM_201253.3:c.2485G>T MANE Select	NP_957705.1:p.Val829Phe
NM_001193640.2:c.2149G>T	NP_001180569.1:p.Val717Phe
NM_001257965.2:c.2278G>T	NP_001244894.1:p.Val760Phe
NR_047563.2:n.2438G>T
NR_047564.2:n.2646G>T
NM_001257966.2:c.2128+5854G>T	NP_001244895.1:n.2128+5854G>T