Canonical Allele Identifier: CA344036047

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446989G>C (hg19) ; chr1:g.197477859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477859G>C , CM000663.2:g.197477859G>C	GRCh38
NC_000001.10:g.197446989G>C , CM000663.1:g.197446989G>C	GRCh37
NC_000001.9:g.195713612G>C	NCBI36
NG_008483.1:g.214582G>C
NG_008483.2:g.281398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4201G>C MANE Select	ENSP00000356370.3:p.Ala1401Pro
ENST00000367399.6:c.3865G>C	ENSP00000356369.2:p.Ala1289Pro
ENST00000367400.7:c.4201G>C	ENSP00000356370.3:p.Ala1401Pro
ENST00000448952.1:c.435G>C	ENSP00000395407.1:n.435G>C
ENST00000484075.5:c.*312G>C	ENSP00000433932.1:n.*312G>C
ENST00000535699.5:c.4129G>C	ENSP00000438786.1:p.Ala1377Pro
ENST00000538660.5:c.2593G>C	ENSP00000438091.1:p.Ala865Pro
NM_001193640.1:c.3865G>C	NP_001180569.1:p.Ala1289Pro
NM_001257965.1:c.4129G>C	NP_001244894.1:p.Ala1377Pro
NM_001257966.1:c.2593G>C	NP_001244895.1:p.Ala865Pro
NM_201253.2:c.4201G>C	NP_957705.1:p.Ala1401Pro
NR_047563.1:n.4202G>C
NR_047564.1:n.4652G>C
XM_011509366.1:c.*306G>C	XP_011507668.1:n.*306G>C
XM_011509367.1:c.*180G>C	XP_011507669.1:n.*180G>C
XM_011509368.1:c.3619G>C	XP_011507670.1:p.Ala1207Pro
XM_011509369.1:c.2644G>C	XP_011507671.1:p.Ala882Pro
XM_011509369.2:c.2644G>C	XP_011507671.1:p.Ala882Pro
XM_017000851.1:c.3358G>C	XP_016856340.1:p.Ala1120Pro
XM_017000852.1:c.4336G>C	XP_016856341.1:p.Ala1446Pro
NM_201253.3:c.4201G>C MANE Select	NP_957705.1:p.Ala1401Pro
NM_001193640.2:c.3865G>C	NP_001180569.1:p.Ala1289Pro
NM_001257965.2:c.4129G>C	NP_001244894.1:p.Ala1377Pro
NR_047563.2:n.4154G>C
NR_047564.2:n.4604G>C
NM_001257966.2:c.2593G>C	NP_001244895.1:p.Ala865Pro