Canonical Allele Identifier: CA344035506

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446846T>A (hg19) ; chr1:g.197477716T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477716T>A , CM000663.2:g.197477716T>A	GRCh38
NC_000001.10:g.197446846T>A , CM000663.1:g.197446846T>A	GRCh37
NC_000001.9:g.195713469T>A	NCBI36
NG_008483.1:g.214439T>A
NG_008483.2:g.281255T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4058T>A MANE Select	ENSP00000356370.3:p.Val1353Asp
ENST00000367399.6:c.3722T>A	ENSP00000356369.2:p.Val1241Asp
ENST00000367400.7:c.4058T>A	ENSP00000356370.3:p.Val1353Asp
ENST00000448952.1:c.292T>A	ENSP00000395407.1:n.292T>A
ENST00000484075.5:c.*169T>A	ENSP00000433932.1:n.*169T>A
ENST00000535699.5:c.3986T>A	ENSP00000438786.1:p.Val1329Asp
ENST00000538660.5:c.2450T>A	ENSP00000438091.1:p.Val817Asp
NM_001193640.1:c.3722T>A	NP_001180569.1:p.Val1241Asp
NM_001257965.1:c.3986T>A	NP_001244894.1:p.Val1329Asp
NM_001257966.1:c.2450T>A	NP_001244895.1:p.Val817Asp
NM_201253.2:c.4058T>A	NP_957705.1:p.Val1353Asp
NR_047563.1:n.4059T>A
NR_047564.1:n.4509T>A
XM_011509366.1:c.*163T>A	XP_011507668.1:n.*163T>A
XM_011509367.1:c.*37T>A	XP_011507669.1:n.*37T>A
XM_011509368.1:c.3476T>A	XP_011507670.1:p.Val1159Asp
XM_011509369.1:c.2501T>A	XP_011507671.1:p.Val834Asp
XM_011509369.2:c.2501T>A	XP_011507671.1:p.Val834Asp
XM_017000851.1:c.3215T>A	XP_016856340.1:p.Val1072Asp
XM_017000852.1:c.4193T>A	XP_016856341.1:p.Val1398Asp
NM_201253.3:c.4058T>A MANE Select	NP_957705.1:p.Val1353Asp
NM_001193640.2:c.3722T>A	NP_001180569.1:p.Val1241Asp
NM_001257965.2:c.3986T>A	NP_001244894.1:p.Val1329Asp
NR_047563.2:n.4011T>A
NR_047564.2:n.4461T>A
NM_001257966.2:c.2450T>A	NP_001244895.1:p.Val817Asp