Canonical Allele Identifier: CA344044130

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403963G>T (hg19) ; chr1:g.197434833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434833G>T , CM000663.2:g.197434833G>T	GRCh38
NC_000001.10:g.197403963G>T , CM000663.1:g.197403963G>T	GRCh37
NC_000001.9:g.195670586G>T	NCBI36
NG_008483.1:g.171556G>T
NG_008483.2:g.238372G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2970G>T MANE Select	ENSP00000356370.3:p.Leu990Phe
ENST00000638467.1:c.2970G>T	ENSP00000491102.1:p.Leu990Phe
ENST00000681519.1:c.1851G>T	ENSP00000505267.1:p.Leu617Phe
ENST00000367397.1:c.1113G>T	ENSP00000356367.1:p.Leu371Phe
ENST00000367399.6:c.2634G>T	ENSP00000356369.2:p.Leu878Phe
ENST00000367400.7:c.2970G>T	ENSP00000356370.3:p.Leu990Phe
ENST00000484075.5:c.2970G>T	ENSP00000433932.1:p.Leu990Phe
ENST00000535699.5:c.2898G>T	ENSP00000438786.1:p.Leu966Phe
ENST00000538660.5:c.2129-767G>T	ENSP00000438091.1:n.2129-767G>T
NM_001193640.1:c.2634G>T	NP_001180569.1:p.Leu878Phe
NM_001257965.1:c.2898G>T	NP_001244894.1:p.Leu966Phe
NM_001257966.1:c.2129-767G>T	NP_001244895.1:n.2129-767G>T
NM_201253.2:c.2970G>T	NP_957705.1:p.Leu990Phe
NR_047563.1:n.2971G>T
NR_047564.1:n.3179G>T
XM_011509365.1:c.2970G>T	XP_011507667.1:p.Leu990Phe
XM_011509366.1:c.2970G>T	XP_011507668.1:p.Leu990Phe
XM_011509367.1:c.2970G>T	XP_011507669.1:p.Leu990Phe
XM_011509368.1:c.2388G>T	XP_011507670.1:p.Leu796Phe
XM_011509369.1:c.1413G>T	XP_011507671.1:p.Leu471Phe
XM_011509365.2:c.2970G>T	XP_011507667.1:p.Leu990Phe
XM_011509369.2:c.1413G>T	XP_011507671.1:p.Leu471Phe
XM_017000851.1:c.2127G>T	XP_016856340.1:p.Leu709Phe
XM_017000852.1:c.3105G>T	XP_016856341.1:p.Leu1035Phe
NM_201253.3:c.2970G>T MANE Select	NP_957705.1:p.Leu990Phe
NM_001193640.2:c.2634G>T	NP_001180569.1:p.Leu878Phe
NM_001257965.2:c.2898G>T	NP_001244894.1:p.Leu966Phe
NR_047563.2:n.2923G>T
NR_047564.2:n.3131G>T
NM_001257966.2:c.2129-767G>T	NP_001244895.1:n.2129-767G>T