Canonical Allele Identifier: CA344035990

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446975T>C (hg19) ; chr1:g.197477845T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477845T>C , CM000663.2:g.197477845T>C	GRCh38
NC_000001.10:g.197446975T>C , CM000663.1:g.197446975T>C	GRCh37
NC_000001.9:g.195713598T>C	NCBI36
NG_008483.1:g.214568T>C
NG_008483.2:g.281384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4187T>C MANE Select	ENSP00000356370.3:p.Leu1396Ser
ENST00000367399.6:c.3851T>C	ENSP00000356369.2:p.Leu1284Ser
ENST00000367400.7:c.4187T>C	ENSP00000356370.3:p.Leu1396Ser
ENST00000448952.1:c.421T>C	ENSP00000395407.1:n.421T>C
ENST00000484075.5:c.*298T>C	ENSP00000433932.1:n.*298T>C
ENST00000535699.5:c.4115T>C	ENSP00000438786.1:p.Leu1372Ser
ENST00000538660.5:c.2579T>C	ENSP00000438091.1:p.Leu860Ser
NM_001193640.1:c.3851T>C	NP_001180569.1:p.Leu1284Ser
NM_001257965.1:c.4115T>C	NP_001244894.1:p.Leu1372Ser
NM_001257966.1:c.2579T>C	NP_001244895.1:p.Leu860Ser
NM_201253.2:c.4187T>C	NP_957705.1:p.Leu1396Ser
NR_047563.1:n.4188T>C
NR_047564.1:n.4638T>C
XM_011509366.1:c.*292T>C	XP_011507668.1:n.*292T>C
XM_011509367.1:c.*166T>C	XP_011507669.1:n.*166T>C
XM_011509368.1:c.3605T>C	XP_011507670.1:p.Leu1202Ser
XM_011509369.1:c.2630T>C	XP_011507671.1:p.Leu877Ser
XM_011509369.2:c.2630T>C	XP_011507671.1:p.Leu877Ser
XM_017000851.1:c.3344T>C	XP_016856340.1:p.Leu1115Ser
XM_017000852.1:c.4322T>C	XP_016856341.1:p.Leu1441Ser
NM_201253.3:c.4187T>C MANE Select	NP_957705.1:p.Leu1396Ser
NM_001193640.2:c.3851T>C	NP_001180569.1:p.Leu1284Ser
NM_001257965.2:c.4115T>C	NP_001244894.1:p.Leu1372Ser
NR_047563.2:n.4140T>C
NR_047564.2:n.4590T>C
NM_001257966.2:c.2579T>C	NP_001244895.1:p.Leu860Ser