Canonical Allele Identifier: CA344045312

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404078G>C (hg19) ; chr1:g.197434948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434948G>C , CM000663.2:g.197434948G>C	GRCh38
NC_000001.10:g.197404078G>C , CM000663.1:g.197404078G>C	GRCh37
NC_000001.9:g.195670701G>C	NCBI36
NG_008483.1:g.171671G>C
NG_008483.2:g.238487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3085G>C MANE Select	ENSP00000356370.3:p.Val1029Leu
ENST00000638467.1:c.3085G>C	ENSP00000491102.1:p.Val1029Leu
ENST00000681519.1:c.1966G>C	ENSP00000505267.1:p.Val656Leu
ENST00000367397.1:c.1228G>C	ENSP00000356367.1:p.Val410Leu
ENST00000367399.6:c.2749G>C	ENSP00000356369.2:p.Val917Leu
ENST00000367400.7:c.3085G>C	ENSP00000356370.3:p.Val1029Leu
ENST00000484075.5:c.3085G>C	ENSP00000433932.1:p.Val1029Leu
ENST00000535699.5:c.3013G>C	ENSP00000438786.1:p.Val1005Leu
ENST00000538660.5:c.2129-652G>C	ENSP00000438091.1:n.2129-652G>C
NM_001193640.1:c.2749G>C	NP_001180569.1:p.Val917Leu
NM_001257965.1:c.3013G>C	NP_001244894.1:p.Val1005Leu
NM_001257966.1:c.2129-652G>C	NP_001244895.1:n.2129-652G>C
NM_201253.2:c.3085G>C	NP_957705.1:p.Val1029Leu
NR_047563.1:n.3086G>C
NR_047564.1:n.3294G>C
XM_011509365.1:c.3085G>C	XP_011507667.1:p.Val1029Leu
XM_011509366.1:c.3085G>C	XP_011507668.1:p.Val1029Leu
XM_011509367.1:c.3085G>C	XP_011507669.1:p.Val1029Leu
XM_011509368.1:c.2503G>C	XP_011507670.1:p.Val835Leu
XM_011509369.1:c.1528G>C	XP_011507671.1:p.Val510Leu
XM_011509365.2:c.3085G>C	XP_011507667.1:p.Val1029Leu
XM_011509369.2:c.1528G>C	XP_011507671.1:p.Val510Leu
XM_017000851.1:c.2242G>C	XP_016856340.1:p.Val748Leu
XM_017000852.1:c.3220G>C	XP_016856341.1:p.Val1074Leu
NM_201253.3:c.3085G>C MANE Select	NP_957705.1:p.Val1029Leu
NM_001193640.2:c.2749G>C	NP_001180569.1:p.Val917Leu
NM_001257965.2:c.3013G>C	NP_001244894.1:p.Val1005Leu
NR_047563.2:n.3038G>C
NR_047564.2:n.3246G>C
NM_001257966.2:c.2129-652G>C	NP_001244895.1:n.2129-652G>C