Canonical Allele Identifier: CA344035548

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446867T>C (hg19) ; chr1:g.197477737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477737T>C , CM000663.2:g.197477737T>C	GRCh38
NC_000001.10:g.197446867T>C , CM000663.1:g.197446867T>C	GRCh37
NC_000001.9:g.195713490T>C	NCBI36
NG_008483.1:g.214460T>C
NG_008483.2:g.281276T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4079T>C MANE Select	ENSP00000356370.3:p.Leu1360Ser
ENST00000367399.6:c.3743T>C	ENSP00000356369.2:p.Leu1248Ser
ENST00000367400.7:c.4079T>C	ENSP00000356370.3:p.Leu1360Ser
ENST00000448952.1:c.313T>C	ENSP00000395407.1:n.313T>C
ENST00000484075.5:c.*190T>C	ENSP00000433932.1:n.*190T>C
ENST00000535699.5:c.4007T>C	ENSP00000438786.1:p.Leu1336Ser
ENST00000538660.5:c.2471T>C	ENSP00000438091.1:p.Leu824Ser
NM_001193640.1:c.3743T>C	NP_001180569.1:p.Leu1248Ser
NM_001257965.1:c.4007T>C	NP_001244894.1:p.Leu1336Ser
NM_001257966.1:c.2471T>C	NP_001244895.1:p.Leu824Ser
NM_201253.2:c.4079T>C	NP_957705.1:p.Leu1360Ser
NR_047563.1:n.4080T>C
NR_047564.1:n.4530T>C
XM_011509366.1:c.*184T>C	XP_011507668.1:n.*184T>C
XM_011509367.1:c.*58T>C	XP_011507669.1:n.*58T>C
XM_011509368.1:c.3497T>C	XP_011507670.1:p.Leu1166Ser
XM_011509369.1:c.2522T>C	XP_011507671.1:p.Leu841Ser
XM_011509369.2:c.2522T>C	XP_011507671.1:p.Leu841Ser
XM_017000851.1:c.3236T>C	XP_016856340.1:p.Leu1079Ser
XM_017000852.1:c.4214T>C	XP_016856341.1:p.Leu1405Ser
NM_201253.3:c.4079T>C MANE Select	NP_957705.1:p.Leu1360Ser
NM_001193640.2:c.3743T>C	NP_001180569.1:p.Leu1248Ser
NM_001257965.2:c.4007T>C	NP_001244894.1:p.Leu1336Ser
NR_047563.2:n.4032T>C
NR_047564.2:n.4482T>C
NM_001257966.2:c.2471T>C	NP_001244895.1:p.Leu824Ser