Canonical Allele Identifier: CA344047045

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404304G>C (hg19) ; chr1:g.197435174G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435174G>C , CM000663.2:g.197435174G>C	GRCh38
NC_000001.10:g.197404304G>C , CM000663.1:g.197404304G>C	GRCh37
NC_000001.9:g.195670927G>C	NCBI36
NG_008483.1:g.171897G>C
NG_008483.2:g.238713G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.3311G>C MANE Select	ENSP00000356370.3:p.Gly1104Ala
ENST00000638467.1:c.3311G>C	ENSP00000491102.1:p.Gly1104Ala
ENST00000681519.1:c.2192G>C	ENSP00000505267.1:p.Gly731Ala
ENST00000367397.1:c.1454G>C	ENSP00000356367.1:p.Gly485Ala
ENST00000367399.6:c.2975G>C	ENSP00000356369.2:p.Gly992Ala
ENST00000367400.7:c.3311G>C	ENSP00000356370.3:p.Gly1104Ala
ENST00000484075.5:c.3311G>C	ENSP00000433932.1:p.Gly1104Ala
ENST00000535699.5:c.3239G>C	ENSP00000438786.1:p.Gly1080Ala
ENST00000538660.5:c.2129-426G>C	ENSP00000438091.1:n.2129-426G>C
NM_001193640.1:c.2975G>C	NP_001180569.1:p.Gly992Ala
NM_001257965.1:c.3239G>C	NP_001244894.1:p.Gly1080Ala
NM_001257966.1:c.2129-426G>C	NP_001244895.1:n.2129-426G>C
NM_201253.2:c.3311G>C	NP_957705.1:p.Gly1104Ala
NR_047563.1:n.3312G>C
NR_047564.1:n.3520G>C
XM_011509365.1:c.3311G>C	XP_011507667.1:p.Gly1104Ala
XM_011509366.1:c.3311G>C	XP_011507668.1:p.Gly1104Ala
XM_011509367.1:c.3311G>C	XP_011507669.1:p.Gly1104Ala
XM_011509368.1:c.2729G>C	XP_011507670.1:p.Gly910Ala
XM_011509369.1:c.1754G>C	XP_011507671.1:p.Gly585Ala
XM_011509365.2:c.3311G>C	XP_011507667.1:p.Gly1104Ala
XM_011509369.2:c.1754G>C	XP_011507671.1:p.Gly585Ala
XM_017000851.1:c.2468G>C	XP_016856340.1:p.Gly823Ala
XM_017000852.1:c.3446G>C	XP_016856341.1:p.Gly1149Ala
NM_201253.3:c.3311G>C MANE Select	NP_957705.1:p.Gly1104Ala
NM_001193640.2:c.2975G>C	NP_001180569.1:p.Gly992Ala
NM_001257965.2:c.3239G>C	NP_001244894.1:p.Gly1080Ala
NR_047563.2:n.3264G>C
NR_047564.2:n.3472G>C
NM_001257966.2:c.2129-426G>C	NP_001244895.1:n.2129-426G>C