Canonical Allele Identifier: CA344035993

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446976G>C (hg19) ; chr1:g.197477846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477846G>C , CM000663.2:g.197477846G>C	GRCh38
NC_000001.10:g.197446976G>C , CM000663.1:g.197446976G>C	GRCh37
NC_000001.9:g.195713599G>C	NCBI36
NG_008483.1:g.214569G>C
NG_008483.2:g.281385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4188G>C MANE Select	ENSP00000356370.3:p.Leu1396Phe
ENST00000367399.6:c.3852G>C	ENSP00000356369.2:p.Leu1284Phe
ENST00000367400.7:c.4188G>C	ENSP00000356370.3:p.Leu1396Phe
ENST00000448952.1:c.422G>C	ENSP00000395407.1:n.422G>C
ENST00000484075.5:c.*299G>C	ENSP00000433932.1:n.*299G>C
ENST00000535699.5:c.4116G>C	ENSP00000438786.1:p.Leu1372Phe
ENST00000538660.5:c.2580G>C	ENSP00000438091.1:p.Leu860Phe
NM_001193640.1:c.3852G>C	NP_001180569.1:p.Leu1284Phe
NM_001257965.1:c.4116G>C	NP_001244894.1:p.Leu1372Phe
NM_001257966.1:c.2580G>C	NP_001244895.1:p.Leu860Phe
NM_201253.2:c.4188G>C	NP_957705.1:p.Leu1396Phe
NR_047563.1:n.4189G>C
NR_047564.1:n.4639G>C
XM_011509366.1:c.*293G>C	XP_011507668.1:n.*293G>C
XM_011509367.1:c.*167G>C	XP_011507669.1:n.*167G>C
XM_011509368.1:c.3606G>C	XP_011507670.1:p.Leu1202Phe
XM_011509369.1:c.2631G>C	XP_011507671.1:p.Leu877Phe
XM_011509369.2:c.2631G>C	XP_011507671.1:p.Leu877Phe
XM_017000851.1:c.3345G>C	XP_016856340.1:p.Leu1115Phe
XM_017000852.1:c.4323G>C	XP_016856341.1:p.Leu1441Phe
NM_201253.3:c.4188G>C MANE Select	NP_957705.1:p.Leu1396Phe
NM_001193640.2:c.3852G>C	NP_001180569.1:p.Leu1284Phe
NM_001257965.2:c.4116G>C	NP_001244894.1:p.Leu1372Phe
NR_047563.2:n.4141G>C
NR_047564.2:n.4591G>C
NM_001257966.2:c.2580G>C	NP_001244895.1:p.Leu860Phe