Canonical Allele Identifier: CA422677432

Gene: CRB1

Linked Data

• dbSNP Id: rs1230642379
• gnomAD v2: 1-197446794-T-C
• gnomAD v4: 1-197477664-T-C
• MyVariant Identifiers: chr1:g.197446794T>C (hg19) ; chr1:g.197477664T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477664T>C , CM000663.2:g.197477664T>C	GRCh38
NC_000001.10:g.197446794T>C , CM000663.1:g.197446794T>C	GRCh37
NC_000001.9:g.195713417T>C	NCBI36
NG_008483.1:g.214387T>C
NG_008483.2:g.281203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4006T>C MANE Select	ENSP00000356370.3:p.Leu1336=
ENST00000367399.6:c.3670T>C	ENSP00000356369.2:p.Leu1224=
ENST00000367400.7:c.4006T>C	ENSP00000356370.3:p.Leu1336=
ENST00000448952.1:c.240T>C	ENSP00000395407.1:n.240T>C
ENST00000484075.5:c.*117T>C	ENSP00000433932.1:n.*117T>C
ENST00000535699.5:c.3934T>C	ENSP00000438786.1:p.Leu1312=
ENST00000538660.5:c.2398T>C	ENSP00000438091.1:p.Leu800=
NM_001193640.1:c.3670T>C	NP_001180569.1:p.Leu1224=
NM_001257965.1:c.3934T>C	NP_001244894.1:p.Leu1312=
NM_001257966.1:c.2398T>C	NP_001244895.1:p.Leu800=
NM_201253.2:c.4006T>C	NP_957705.1:p.Leu1336=
NR_047563.1:n.4007T>C
NR_047564.1:n.4457T>C
XM_011509366.1:c.*111T>C	XP_011507668.1:n.*111T>C
XM_011509367.1:c.3879T>C	XP_011507669.1:p.Cys1293=
XM_011509368.1:c.3424T>C	XP_011507670.1:p.Leu1142=
XM_011509369.1:c.2449T>C	XP_011507671.1:p.Leu817=
XM_011509369.2:c.2449T>C	XP_011507671.1:p.Leu817=
XM_017000851.1:c.3163T>C	XP_016856340.1:p.Leu1055=
XM_017000852.1:c.4141T>C	XP_016856341.1:p.Leu1381=
NM_201253.3:c.4006T>C MANE Select	NP_957705.1:p.Leu1336=
NM_001193640.2:c.3670T>C	NP_001180569.1:p.Leu1224=
NM_001257965.2:c.3934T>C	NP_001244894.1:p.Leu1312=
NR_047563.2:n.3959T>C
NR_047564.2:n.4409T>C
NM_001257966.2:c.2398T>C	NP_001244895.1:p.Leu800=