Canonical Allele Identifier: CA344037470

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427780-G-T
• MyVariant Identifiers: chr1:g.197396910G>T (hg19) ; chr1:g.197427780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427780G>T , CM000663.2:g.197427780G>T	GRCh38
NC_000001.10:g.197396910G>T , CM000663.1:g.197396910G>T	GRCh37
NC_000001.9:g.195663533G>T	NCBI36
NG_008483.1:g.164503G>T
NG_008483.2:g.231319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2455G>T MANE Select	ENSP00000356370.3:p.Ala819Ser
ENST00000638467.1:c.2455G>T	ENSP00000491102.1:p.Ala819Ser
ENST00000681519.1:c.1336G>T	ENSP00000505267.1:p.Ala446Ser
ENST00000367397.1:c.598G>T	ENSP00000356367.1:p.Ala200Ser
ENST00000367399.6:c.2119G>T	ENSP00000356369.2:p.Ala707Ser
ENST00000367400.7:c.2455G>T	ENSP00000356370.3:p.Ala819Ser
ENST00000480086.2:n.356G>T
ENST00000484075.5:c.2455G>T	ENSP00000433932.1:p.Ala819Ser
ENST00000535699.5:c.2248G>T	ENSP00000438786.1:p.Ala750Ser
ENST00000538660.5:c.2128+5824G>T	ENSP00000438091.1:n.2128+5824G>T
NM_001193640.1:c.2119G>T	NP_001180569.1:p.Ala707Ser
NM_001257965.1:c.2248G>T	NP_001244894.1:p.Ala750Ser
NM_001257966.1:c.2128+5824G>T	NP_001244895.1:n.2128+5824G>T
NM_201253.2:c.2455G>T	NP_957705.1:p.Ala819Ser
NR_047563.1:n.2456G>T
NR_047564.1:n.2664G>T
XM_011509365.1:c.2455G>T	XP_011507667.1:p.Ala819Ser
XM_011509366.1:c.2455G>T	XP_011507668.1:p.Ala819Ser
XM_011509367.1:c.2455G>T	XP_011507669.1:p.Ala819Ser
XM_011509368.1:c.1873G>T	XP_011507670.1:p.Ala625Ser
XM_011509369.1:c.898G>T	XP_011507671.1:p.Ala300Ser
XM_011509365.2:c.2455G>T	XP_011507667.1:p.Ala819Ser
XM_011509369.2:c.898G>T	XP_011507671.1:p.Ala300Ser
XM_017000851.1:c.1612G>T	XP_016856340.1:p.Ala538Ser
XM_017000852.1:c.2455G>T	XP_016856341.1:p.Ala819Ser
NM_201253.3:c.2455G>T MANE Select	NP_957705.1:p.Ala819Ser
NM_001193640.2:c.2119G>T	NP_001180569.1:p.Ala707Ser
NM_001257965.2:c.2248G>T	NP_001244894.1:p.Ala750Ser
NR_047563.2:n.2408G>T
NR_047564.2:n.2616G>T
NM_001257966.2:c.2128+5824G>T	NP_001244895.1:n.2128+5824G>T