Canonical Allele Identifier: CA344032871

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2140689
• ClinVar RCV Id: RCV003056576
• gnomAD v4: 1-197421731-T-C
• MyVariant Identifiers: chr1:g.197390861T>C (hg19) ; chr1:g.197421731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421731T>C , CM000663.2:g.197421731T>C	GRCh38
NC_000001.10:g.197390861T>C , CM000663.1:g.197390861T>C	GRCh37
NC_000001.9:g.195657484T>C	NCBI36
NG_008483.1:g.158454T>C
NG_008483.2:g.225270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1903T>C MANE Select	ENSP00000356370.3:p.Ser635Pro
ENST00000638467.1:c.1903T>C	ENSP00000491102.1:p.Ser635Pro
ENST00000681519.1:c.784T>C	ENSP00000505267.1:p.Ser262Pro
ENST00000367397.1:c.46T>C	ENSP00000356367.1:p.Ser16Pro
ENST00000367399.6:c.1567T>C	ENSP00000356369.2:p.Ser523Pro
ENST00000367400.7:c.1903T>C	ENSP00000356370.3:p.Ser635Pro
ENST00000484075.5:c.1903T>C	ENSP00000433932.1:p.Ser635Pro
ENST00000535699.5:c.1696T>C	ENSP00000438786.1:p.Ser566Pro
ENST00000538660.5:c.1903T>C	ENSP00000438091.1:p.Ser635Pro
NM_001193640.1:c.1567T>C	NP_001180569.1:p.Ser523Pro
NM_001257965.1:c.1696T>C	NP_001244894.1:p.Ser566Pro
NM_001257966.1:c.1903T>C	NP_001244895.1:p.Ser635Pro
NM_201253.2:c.1903T>C	NP_957705.1:p.Ser635Pro
NR_047563.1:n.1923-19T>C
NR_047564.1:n.2112T>C
XM_011509365.1:c.1903T>C	XP_011507667.1:p.Ser635Pro
XM_011509366.1:c.1903T>C	XP_011507668.1:p.Ser635Pro
XM_011509367.1:c.1903T>C	XP_011507669.1:p.Ser635Pro
XM_011509368.1:c.1321T>C	XP_011507670.1:p.Ser441Pro
XM_011509369.1:c.346T>C	XP_011507671.1:p.Ser116Pro
XM_011509365.2:c.1903T>C	XP_011507667.1:p.Ser635Pro
XM_011509369.2:c.346T>C	XP_011507671.1:p.Ser116Pro
XM_017000851.1:c.1060T>C	XP_016856340.1:p.Ser354Pro
XM_017000852.1:c.1903T>C	XP_016856341.1:p.Ser635Pro
NM_201253.3:c.1903T>C MANE Select	NP_957705.1:p.Ser635Pro
NM_001193640.2:c.1567T>C	NP_001180569.1:p.Ser523Pro
NM_001257965.2:c.1696T>C	NP_001244894.1:p.Ser566Pro
NR_047563.2:n.1875-19T>C
NR_047564.2:n.2064T>C
NM_001257966.2:c.1903T>C	NP_001244895.1:p.Ser635Pro