Canonical Allele Identifier: CA344037048

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396817C>A (hg19) ; chr1:g.197427687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427687C>A , CM000663.2:g.197427687C>A	GRCh38
NC_000001.10:g.197396817C>A , CM000663.1:g.197396817C>A	GRCh37
NC_000001.9:g.195663440C>A	NCBI36
NG_008483.1:g.164410C>A
NG_008483.2:g.231226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2362C>A MANE Select	ENSP00000356370.3:p.Leu788Ile
ENST00000638467.1:c.2362C>A	ENSP00000491102.1:p.Leu788Ile
ENST00000681519.1:c.1243C>A	ENSP00000505267.1:p.Leu415Ile
ENST00000367397.1:c.505C>A	ENSP00000356367.1:p.Leu169Ile
ENST00000367399.6:c.2026C>A	ENSP00000356369.2:p.Leu676Ile
ENST00000367400.7:c.2362C>A	ENSP00000356370.3:p.Leu788Ile
ENST00000480086.2:n.263C>A
ENST00000484075.5:c.2362C>A	ENSP00000433932.1:p.Leu788Ile
ENST00000535699.5:c.2155C>A	ENSP00000438786.1:p.Leu719Ile
ENST00000538660.5:c.2128+5731C>A	ENSP00000438091.1:n.2128+5731C>A
NM_001193640.1:c.2026C>A	NP_001180569.1:p.Leu676Ile
NM_001257965.1:c.2155C>A	NP_001244894.1:p.Leu719Ile
NM_001257966.1:c.2128+5731C>A	NP_001244895.1:n.2128+5731C>A
NM_201253.2:c.2362C>A	NP_957705.1:p.Leu788Ile
NR_047563.1:n.2363C>A
NR_047564.1:n.2571C>A
XM_011509365.1:c.2362C>A	XP_011507667.1:p.Leu788Ile
XM_011509366.1:c.2362C>A	XP_011507668.1:p.Leu788Ile
XM_011509367.1:c.2362C>A	XP_011507669.1:p.Leu788Ile
XM_011509368.1:c.1780C>A	XP_011507670.1:p.Leu594Ile
XM_011509369.1:c.805C>A	XP_011507671.1:p.Leu269Ile
XM_011509365.2:c.2362C>A	XP_011507667.1:p.Leu788Ile
XM_011509369.2:c.805C>A	XP_011507671.1:p.Leu269Ile
XM_017000851.1:c.1519C>A	XP_016856340.1:p.Leu507Ile
XM_017000852.1:c.2362C>A	XP_016856341.1:p.Leu788Ile
NM_201253.3:c.2362C>A MANE Select	NP_957705.1:p.Leu788Ile
NM_001193640.2:c.2026C>A	NP_001180569.1:p.Leu676Ile
NM_001257965.2:c.2155C>A	NP_001244894.1:p.Leu719Ile
NR_047563.2:n.2315C>A
NR_047564.2:n.2523C>A
NM_001257966.2:c.2128+5731C>A	NP_001244895.1:n.2128+5731C>A