Canonical Allele Identifier: CA344052629

Gene: CRB1

Linked Data

• dbSNP Id: rs769995341
• gnomAD v2: 1-197411379-G-C
• gnomAD v4: 1-197442249-G-C
• MyVariant Identifiers: chr1:g.197411379G>C (hg19) ; chr1:g.197442249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442249G>C , CM000663.2:g.197442249G>C	GRCh38
NC_000001.10:g.197411379G>C , CM000663.1:g.197411379G>C	GRCh37
NC_000001.9:g.195678002G>C	NCBI36
NG_008483.1:g.178972G>C
NG_008483.2:g.245788G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3962G>C MANE Select	ENSP00000356370.3:p.Cys1321Ser
ENST00000638467.1:c.3962G>C	ENSP00000491102.1:p.Cys1321Ser
ENST00000681519.1:c.2843G>C	ENSP00000505267.1:p.Cys948Ser
ENST00000367397.1:c.*3570G>C	ENSP00000356367.1:n.*3570G>C
ENST00000367399.6:c.3626G>C	ENSP00000356369.2:p.Cys1209Ser
ENST00000367400.7:c.3962G>C	ENSP00000356370.3:p.Cys1321Ser
ENST00000448952.1:c.80G>C	ENSP00000395407.1:p.Cys27Ser
ENST00000484075.5:c.3962G>C	ENSP00000433932.1:p.Cys1321Ser
ENST00000535699.5:c.3890G>C	ENSP00000438786.1:p.Cys1297Ser
ENST00000538660.5:c.2354G>C	ENSP00000438091.1:p.Cys785Ser
NM_001193640.1:c.3626G>C	NP_001180569.1:p.Cys1209Ser
NM_001257965.1:c.3890G>C	NP_001244894.1:p.Cys1297Ser
NM_001257966.1:c.2354G>C	NP_001244895.1:p.Cys785Ser
NM_201253.2:c.3962G>C	NP_957705.1:p.Cys1321Ser
NR_047563.1:n.3963G>C
NR_047564.1:n.4171G>C
XM_011509365.1:c.3962G>C	XP_011507667.1:p.Cys1321Ser
XM_011509366.1:c.3962G>C	XP_011507668.1:p.Cys1321Ser
XM_011509367.1:c.3878+3574G>C	XP_011507669.1:n.3878+3574G>C
XM_011509368.1:c.3380G>C	XP_011507670.1:p.Cys1127Ser
XM_011509369.1:c.2405G>C	XP_011507671.1:p.Cys802Ser
XM_011509365.2:c.3962G>C	XP_011507667.1:p.Cys1321Ser
XM_011509369.2:c.2405G>C	XP_011507671.1:p.Cys802Ser
XM_017000851.1:c.3119G>C	XP_016856340.1:p.Cys1040Ser
XM_017000852.1:c.4097G>C	XP_016856341.1:p.Cys1366Ser
NM_201253.3:c.3962G>C MANE Select	NP_957705.1:p.Cys1321Ser
NM_001193640.2:c.3626G>C	NP_001180569.1:p.Cys1209Ser
NM_001257965.2:c.3890G>C	NP_001244894.1:p.Cys1297Ser
NR_047563.2:n.3915G>C
NR_047564.2:n.4123G>C
NM_001257966.2:c.2354G>C	NP_001244895.1:p.Cys785Ser