Canonical Allele Identifier: CA344035569

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446878G>C (hg19) ; chr1:g.197477748G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477748G>C , CM000663.2:g.197477748G>C	GRCh38
NC_000001.10:g.197446878G>C , CM000663.1:g.197446878G>C	GRCh37
NC_000001.9:g.195713501G>C	NCBI36
NG_008483.1:g.214471G>C
NG_008483.2:g.281287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4090G>C MANE Select	ENSP00000356370.3:p.Val1364Leu
ENST00000367399.6:c.3754G>C	ENSP00000356369.2:p.Val1252Leu
ENST00000367400.7:c.4090G>C	ENSP00000356370.3:p.Val1364Leu
ENST00000448952.1:c.324G>C	ENSP00000395407.1:n.324G>C
ENST00000484075.5:c.*201G>C	ENSP00000433932.1:n.*201G>C
ENST00000535699.5:c.4018G>C	ENSP00000438786.1:p.Val1340Leu
ENST00000538660.5:c.2482G>C	ENSP00000438091.1:p.Val828Leu
NM_001193640.1:c.3754G>C	NP_001180569.1:p.Val1252Leu
NM_001257965.1:c.4018G>C	NP_001244894.1:p.Val1340Leu
NM_001257966.1:c.2482G>C	NP_001244895.1:p.Val828Leu
NM_201253.2:c.4090G>C	NP_957705.1:p.Val1364Leu
NR_047563.1:n.4091G>C
NR_047564.1:n.4541G>C
XM_011509366.1:c.*195G>C	XP_011507668.1:n.*195G>C
XM_011509367.1:c.*69G>C	XP_011507669.1:n.*69G>C
XM_011509368.1:c.3508G>C	XP_011507670.1:p.Val1170Leu
XM_011509369.1:c.2533G>C	XP_011507671.1:p.Val845Leu
XM_011509369.2:c.2533G>C	XP_011507671.1:p.Val845Leu
XM_017000851.1:c.3247G>C	XP_016856340.1:p.Val1083Leu
XM_017000852.1:c.4225G>C	XP_016856341.1:p.Val1409Leu
NM_201253.3:c.4090G>C MANE Select	NP_957705.1:p.Val1364Leu
NM_001193640.2:c.3754G>C	NP_001180569.1:p.Val1252Leu
NM_001257965.2:c.4018G>C	NP_001244894.1:p.Val1340Leu
NR_047563.2:n.4043G>C
NR_047564.2:n.4493G>C
NM_001257966.2:c.2482G>C	NP_001244895.1:p.Val828Leu