Canonical Allele Identifier: CA344038162

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396999C>A (hg19) ; chr1:g.197427869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427869C>A , CM000663.2:g.197427869C>A	GRCh38
NC_000001.10:g.197396999C>A , CM000663.1:g.197396999C>A	GRCh37
NC_000001.9:g.195663622C>A	NCBI36
NG_008483.1:g.164592C>A
NG_008483.2:g.231408C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2544C>A MANE Select	ENSP00000356370.3:p.Phe848Leu
ENST00000638467.1:c.2544C>A	ENSP00000491102.1:p.Phe848Leu
ENST00000681519.1:c.1425C>A	ENSP00000505267.1:p.Phe475Leu
ENST00000367397.1:c.687C>A	ENSP00000356367.1:p.Phe229Leu
ENST00000367399.6:c.2208C>A	ENSP00000356369.2:p.Phe736Leu
ENST00000367400.7:c.2544C>A	ENSP00000356370.3:p.Phe848Leu
ENST00000484075.5:c.2544C>A	ENSP00000433932.1:p.Phe848Leu
ENST00000535699.5:c.2337C>A	ENSP00000438786.1:p.Phe779Leu
ENST00000538660.5:c.2128+5913C>A	ENSP00000438091.1:n.2128+5913C>A
NM_001193640.1:c.2208C>A	NP_001180569.1:p.Phe736Leu
NM_001257965.1:c.2337C>A	NP_001244894.1:p.Phe779Leu
NM_001257966.1:c.2128+5913C>A	NP_001244895.1:n.2128+5913C>A
NM_201253.2:c.2544C>A	NP_957705.1:p.Phe848Leu
NR_047563.1:n.2545C>A
NR_047564.1:n.2753C>A
XM_011509365.1:c.2544C>A	XP_011507667.1:p.Phe848Leu
XM_011509366.1:c.2544C>A	XP_011507668.1:p.Phe848Leu
XM_011509367.1:c.2544C>A	XP_011507669.1:p.Phe848Leu
XM_011509368.1:c.1962C>A	XP_011507670.1:p.Phe654Leu
XM_011509369.1:c.987C>A	XP_011507671.1:p.Phe329Leu
XM_011509365.2:c.2544C>A	XP_011507667.1:p.Phe848Leu
XM_011509369.2:c.987C>A	XP_011507671.1:p.Phe329Leu
XM_017000851.1:c.1701C>A	XP_016856340.1:p.Phe567Leu
XM_017000852.1:c.2544C>A	XP_016856341.1:p.Phe848Leu
NM_201253.3:c.2544C>A MANE Select	NP_957705.1:p.Phe848Leu
NM_001193640.2:c.2208C>A	NP_001180569.1:p.Phe736Leu
NM_001257965.2:c.2337C>A	NP_001244894.1:p.Phe779Leu
NR_047563.2:n.2497C>A
NR_047564.2:n.2705C>A
NM_001257966.2:c.2128+5913C>A	NP_001244895.1:n.2128+5913C>A