Canonical Allele Identifier: CA344035507

Gene: CRB1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4058T>G MANE Select	ENSP00000356370.3:p.Val1353Gly
ENST00000367399.6:c.3722T>G	ENSP00000356369.2:p.Val1241Gly
ENST00000367400.7:c.4058T>G	ENSP00000356370.3:p.Val1353Gly
ENST00000448952.1:c.292T>G	ENSP00000395407.1:n.292T>G
ENST00000484075.5:c.*169T>G	ENSP00000433932.1:n.*169T>G
ENST00000535699.5:c.3986T>G	ENSP00000438786.1:p.Val1329Gly
ENST00000538660.5:c.2450T>G	ENSP00000438091.1:p.Val817Gly
NM_001193640.1:c.3722T>G	NP_001180569.1:p.Val1241Gly
NM_001257965.1:c.3986T>G	NP_001244894.1:p.Val1329Gly
NM_001257966.1:c.2450T>G	NP_001244895.1:p.Val817Gly
NM_201253.2:c.4058T>G	NP_957705.1:p.Val1353Gly
NR_047563.1:n.4059T>G
NR_047564.1:n.4509T>G
XM_011509366.1:c.*163T>G	XP_011507668.1:n.*163T>G
XM_011509367.1:c.*37T>G	XP_011507669.1:n.*37T>G
XM_011509368.1:c.3476T>G	XP_011507670.1:p.Val1159Gly
XM_011509369.1:c.2501T>G	XP_011507671.1:p.Val834Gly
XM_011509369.2:c.2501T>G	XP_011507671.1:p.Val834Gly
XM_017000851.1:c.3215T>G	XP_016856340.1:p.Val1072Gly
XM_017000852.1:c.4193T>G	XP_016856341.1:p.Val1398Gly
NM_201253.3:c.4058T>G MANE Select	NP_957705.1:p.Val1353Gly
NM_001193640.2:c.3722T>G	NP_001180569.1:p.Val1241Gly
NM_001257965.2:c.3986T>G	NP_001244894.1:p.Val1329Gly
NR_047563.2:n.4011T>G
NR_047564.2:n.4461T>G
NM_001257966.2:c.2450T>G	NP_001244895.1:p.Val817Gly