Canonical Allele Identifier: CA344030244

Gene: CRB1

Linked Data

• dbSNP Id: rs1664285663
• gnomAD v4: 1-197421122-T-C
• MyVariant Identifiers: chr1:g.197390252T>C (hg19) ; chr1:g.197421122T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421122T>C , CM000663.2:g.197421122T>C	GRCh38
NC_000001.10:g.197390252T>C , CM000663.1:g.197390252T>C	GRCh37
NC_000001.9:g.195656875T>C	NCBI36
NG_008483.1:g.157845T>C
NG_008483.2:g.224661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1294T>C MANE Select	ENSP00000356370.3:p.Phe432Leu
ENST00000638467.1:c.1294T>C	ENSP00000491102.1:p.Phe432Leu
ENST00000681519.1:c.175T>C	ENSP00000505267.1:p.Phe59Leu
ENST00000367397.1:c.-564T>C	ENSP00000356367.1:n.-564T>C
ENST00000367399.6:c.958T>C	ENSP00000356369.2:p.Phe320Leu
ENST00000367400.7:c.1294T>C	ENSP00000356370.3:p.Phe432Leu
ENST00000476483.1:n.254T>C
ENST00000484075.5:c.1294T>C	ENSP00000433932.1:p.Phe432Leu
ENST00000535699.5:c.1087T>C	ENSP00000438786.1:p.Phe363Leu
ENST00000538660.5:c.1294T>C	ENSP00000438091.1:p.Phe432Leu
NM_001193640.1:c.958T>C	NP_001180569.1:p.Phe320Leu
NM_001257965.1:c.1087T>C	NP_001244894.1:p.Phe363Leu
NM_001257966.1:c.1294T>C	NP_001244895.1:p.Phe432Leu
NM_201253.2:c.1294T>C	NP_957705.1:p.Phe432Leu
NR_047563.1:n.1503T>C
NR_047564.1:n.1503T>C
XM_011509365.1:c.1294T>C	XP_011507667.1:p.Phe432Leu
XM_011509366.1:c.1294T>C	XP_011507668.1:p.Phe432Leu
XM_011509367.1:c.1294T>C	XP_011507669.1:p.Phe432Leu
XM_011509368.1:c.712T>C	XP_011507670.1:p.Phe238Leu
XM_011509369.1:c.-264T>C	XP_011507671.1:n.-264T>C
XM_011509365.2:c.1294T>C	XP_011507667.1:p.Phe432Leu
XM_011509369.2:c.-264T>C	XP_011507671.1:n.-264T>C
XM_017000851.1:c.451T>C	XP_016856340.1:p.Phe151Leu
XM_017000852.1:c.1294T>C	XP_016856341.1:p.Phe432Leu
NM_201253.3:c.1294T>C MANE Select	NP_957705.1:p.Phe432Leu
NM_001193640.2:c.958T>C	NP_001180569.1:p.Phe320Leu
NM_001257965.2:c.1087T>C	NP_001244894.1:p.Phe363Leu
NR_047563.2:n.1455T>C
NR_047564.2:n.1455T>C
NM_001257966.2:c.1294T>C	NP_001244895.1:p.Phe432Leu