Canonical Allele Identifier: CA344046595

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404199G>C (hg19) ; chr1:g.197435069G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435069G>C , CM000663.2:g.197435069G>C	GRCh38
NC_000001.10:g.197404199G>C , CM000663.1:g.197404199G>C	GRCh37
NC_000001.9:g.195670822G>C	NCBI36
NG_008483.1:g.171792G>C
NG_008483.2:g.238608G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3206G>C MANE Select	ENSP00000356370.3:p.Gly1069Ala
ENST00000638467.1:c.3206G>C	ENSP00000491102.1:p.Gly1069Ala
ENST00000681519.1:c.2087G>C	ENSP00000505267.1:p.Gly696Ala
ENST00000367397.1:c.1349G>C	ENSP00000356367.1:p.Gly450Ala
ENST00000367399.6:c.2870G>C	ENSP00000356369.2:p.Gly957Ala
ENST00000367400.7:c.3206G>C	ENSP00000356370.3:p.Gly1069Ala
ENST00000484075.5:c.3206G>C	ENSP00000433932.1:p.Gly1069Ala
ENST00000535699.5:c.3134G>C	ENSP00000438786.1:p.Gly1045Ala
ENST00000538660.5:c.2129-531G>C	ENSP00000438091.1:n.2129-531G>C
NM_001193640.1:c.2870G>C	NP_001180569.1:p.Gly957Ala
NM_001257965.1:c.3134G>C	NP_001244894.1:p.Gly1045Ala
NM_001257966.1:c.2129-531G>C	NP_001244895.1:n.2129-531G>C
NM_201253.2:c.3206G>C	NP_957705.1:p.Gly1069Ala
NR_047563.1:n.3207G>C
NR_047564.1:n.3415G>C
XM_011509365.1:c.3206G>C	XP_011507667.1:p.Gly1069Ala
XM_011509366.1:c.3206G>C	XP_011507668.1:p.Gly1069Ala
XM_011509367.1:c.3206G>C	XP_011507669.1:p.Gly1069Ala
XM_011509368.1:c.2624G>C	XP_011507670.1:p.Gly875Ala
XM_011509369.1:c.1649G>C	XP_011507671.1:p.Gly550Ala
XM_011509365.2:c.3206G>C	XP_011507667.1:p.Gly1069Ala
XM_011509369.2:c.1649G>C	XP_011507671.1:p.Gly550Ala
XM_017000851.1:c.2363G>C	XP_016856340.1:p.Gly788Ala
XM_017000852.1:c.3341G>C	XP_016856341.1:p.Gly1114Ala
NM_201253.3:c.3206G>C MANE Select	NP_957705.1:p.Gly1069Ala
NM_001193640.2:c.2870G>C	NP_001180569.1:p.Gly957Ala
NM_001257965.2:c.3134G>C	NP_001244894.1:p.Gly1045Ala
NR_047563.2:n.3159G>C
NR_047564.2:n.3367G>C
NM_001257966.2:c.2129-531G>C	NP_001244895.1:n.2129-531G>C