Canonical Allele Identifier: CA422808252

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421349-T-C
• MyVariant Identifiers: chr1:g.197390479T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421349T>C , CM000663.2:g.197421349T>C	GRCh38
NC_000001.10:g.197390479T>C , CM000663.1:g.197390479T>C	GRCh37
NC_000001.9:g.195657102T>C	NCBI36
NG_008483.1:g.158072T>C
NG_008483.2:g.224888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1521T>C MANE Select	ENSP00000356370.3:p.Val507=
ENST00000638467.1:c.1521T>C	ENSP00000491102.1:p.Val507=
ENST00000681519.1:c.402T>C	ENSP00000505267.1:p.Val134=
ENST00000367397.1:c.-337T>C	ENSP00000356367.1:n.-337T>C
ENST00000367399.6:c.1185T>C	ENSP00000356369.2:p.Val395=
ENST00000367400.7:c.1521T>C	ENSP00000356370.3:p.Val507=
ENST00000476483.1:n.481T>C
ENST00000484075.5:c.1521T>C	ENSP00000433932.1:p.Val507=
ENST00000535699.5:c.1314T>C	ENSP00000438786.1:p.Val438=
ENST00000538660.5:c.1521T>C	ENSP00000438091.1:p.Val507=
NM_001193640.1:c.1185T>C	NP_001180569.1:p.Val395=
NM_001257965.1:c.1314T>C	NP_001244894.1:p.Val438=
NM_001257966.1:c.1521T>C	NP_001244895.1:p.Val507=
NM_201253.2:c.1521T>C	NP_957705.1:p.Val507=
NR_047563.1:n.1730T>C
NR_047564.1:n.1730T>C
XM_011509365.1:c.1521T>C	XP_011507667.1:p.Val507=
XM_011509366.1:c.1521T>C	XP_011507668.1:p.Val507=
XM_011509367.1:c.1521T>C	XP_011507669.1:p.Val507=
XM_011509368.1:c.939T>C	XP_011507670.1:p.Val313=
XM_011509369.1:c.-37T>C	XP_011507671.1:n.-37T>C
XM_011509365.2:c.1521T>C	XP_011507667.1:p.Val507=
XM_011509369.2:c.-37T>C	XP_011507671.1:n.-37T>C
XM_017000851.1:c.678T>C	XP_016856340.1:p.Val226=
XM_017000852.1:c.1521T>C	XP_016856341.1:p.Val507=
NM_201253.3:c.1521T>C MANE Select	NP_957705.1:p.Val507=
NM_001193640.2:c.1185T>C	NP_001180569.1:p.Val395=
NM_001257965.2:c.1314T>C	NP_001244894.1:p.Val438=
NR_047563.2:n.1682T>C
NR_047564.2:n.1682T>C
NM_001257966.2:c.1521T>C	NP_001244895.1:p.Val507=