Canonical Allele Identifier: CA344085029

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328455T>C , CM000663.2:g.197328455T>C	GRCh38
NC_000001.10:g.197297585T>C , CM000663.1:g.197297585T>C	GRCh37
NC_000001.9:g.195564208T>C	NCBI36
NG_008483.1:g.65178T>C
NG_008483.2:g.131994T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.104T>C MANE Select	ENSP00000356370.3:p.Leu35Pro
ENST00000638467.1:c.104T>C	ENSP00000491102.1:p.Leu35Pro
ENST00000367399.6:c.104T>C	ENSP00000356369.2:p.Leu35Pro
ENST00000367400.7:c.104T>C	ENSP00000356370.3:p.Leu35Pro
ENST00000475659.1:n.241T>C
ENST00000484075.5:c.104T>C	ENSP00000433932.1:p.Leu35Pro
ENST00000535699.5:c.-104T>C	ENSP00000438786.1:n.-104T>C
ENST00000538660.5:c.104T>C	ENSP00000438091.1:p.Leu35Pro
NM_001193640.1:c.104T>C	NP_001180569.1:p.Leu35Pro
NM_001257965.1:c.-104T>C	NP_001244894.1:n.-104T>C
NM_001257966.1:c.104T>C	NP_001244895.1:p.Leu35Pro
NM_201253.2:c.104T>C	NP_957705.1:p.Leu35Pro
NR_047563.1:n.313T>C
NR_047564.1:n.313T>C
XM_011509365.1:c.104T>C	XP_011507667.1:p.Leu35Pro
XM_011509366.1:c.104T>C	XP_011507668.1:p.Leu35Pro
XM_011509367.1:c.104T>C	XP_011507669.1:p.Leu35Pro
XM_011509368.1:c.71-15826T>C	XP_011507670.1:n.71-15826T>C
XM_011509365.2:c.104T>C	XP_011507667.1:p.Leu35Pro
XM_017000851.1:c.-600T>C	XP_016856340.1:n.-600T>C
XM_017000852.1:c.104T>C	XP_016856341.1:p.Leu35Pro
NM_201253.3:c.104T>C MANE Select	NP_957705.1:p.Leu35Pro
NM_001193640.2:c.104T>C	NP_001180569.1:p.Leu35Pro
NM_001257965.2:c.-104T>C	NP_001244894.1:n.-104T>C
NR_047563.2:n.265T>C
NR_047564.2:n.265T>C
NM_001257966.2:c.104T>C	NP_001244895.1:p.Leu35Pro