Canonical Allele Identifier: CA344046602

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404201A>T (hg19) ; chr1:g.197435071A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435071A>T , CM000663.2:g.197435071A>T	GRCh38
NC_000001.10:g.197404201A>T , CM000663.1:g.197404201A>T	GRCh37
NC_000001.9:g.195670824A>T	NCBI36
NG_008483.1:g.171794A>T
NG_008483.2:g.238610A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3208A>T MANE Select	ENSP00000356370.3:p.Ser1070Cys
ENST00000638467.1:c.3208A>T	ENSP00000491102.1:p.Ser1070Cys
ENST00000681519.1:c.2089A>T	ENSP00000505267.1:p.Ser697Cys
ENST00000367397.1:c.1351A>T	ENSP00000356367.1:p.Ser451Cys
ENST00000367399.6:c.2872A>T	ENSP00000356369.2:p.Ser958Cys
ENST00000367400.7:c.3208A>T	ENSP00000356370.3:p.Ser1070Cys
ENST00000484075.5:c.3208A>T	ENSP00000433932.1:p.Ser1070Cys
ENST00000535699.5:c.3136A>T	ENSP00000438786.1:p.Ser1046Cys
ENST00000538660.5:c.2129-529A>T	ENSP00000438091.1:n.2129-529A>T
NM_001193640.1:c.2872A>T	NP_001180569.1:p.Ser958Cys
NM_001257965.1:c.3136A>T	NP_001244894.1:p.Ser1046Cys
NM_001257966.1:c.2129-529A>T	NP_001244895.1:n.2129-529A>T
NM_201253.2:c.3208A>T	NP_957705.1:p.Ser1070Cys
NR_047563.1:n.3209A>T
NR_047564.1:n.3417A>T
XM_011509365.1:c.3208A>T	XP_011507667.1:p.Ser1070Cys
XM_011509366.1:c.3208A>T	XP_011507668.1:p.Ser1070Cys
XM_011509367.1:c.3208A>T	XP_011507669.1:p.Ser1070Cys
XM_011509368.1:c.2626A>T	XP_011507670.1:p.Ser876Cys
XM_011509369.1:c.1651A>T	XP_011507671.1:p.Ser551Cys
XM_011509365.2:c.3208A>T	XP_011507667.1:p.Ser1070Cys
XM_011509369.2:c.1651A>T	XP_011507671.1:p.Ser551Cys
XM_017000851.1:c.2365A>T	XP_016856340.1:p.Ser789Cys
XM_017000852.1:c.3343A>T	XP_016856341.1:p.Ser1115Cys
NM_201253.3:c.3208A>T MANE Select	NP_957705.1:p.Ser1070Cys
NM_001193640.2:c.2872A>T	NP_001180569.1:p.Ser958Cys
NM_001257965.2:c.3136A>T	NP_001244894.1:p.Ser1046Cys
NR_047563.2:n.3161A>T
NR_047564.2:n.3369A>T
NM_001257966.2:c.2129-529A>T	NP_001244895.1:n.2129-529A>T