Canonical Allele Identifier: CA344047616

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404399G>T (hg19) ; chr1:g.197435269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435269G>T , CM000663.2:g.197435269G>T	GRCh38
NC_000001.10:g.197404399G>T , CM000663.1:g.197404399G>T	GRCh37
NC_000001.9:g.195671022G>T	NCBI36
NG_008483.1:g.171992G>T
NG_008483.2:g.238808G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3406G>T MANE Select	ENSP00000356370.3:p.Gly1136Cys
ENST00000638467.1:c.3406G>T	ENSP00000491102.1:p.Gly1136Cys
ENST00000681519.1:c.2287G>T	ENSP00000505267.1:p.Gly763Cys
ENST00000367397.1:c.1549G>T	ENSP00000356367.1:p.Gly517Cys
ENST00000367399.6:c.3070G>T	ENSP00000356369.2:p.Gly1024Cys
ENST00000367400.7:c.3406G>T	ENSP00000356370.3:p.Gly1136Cys
ENST00000484075.5:c.3406G>T	ENSP00000433932.1:p.Gly1136Cys
ENST00000535699.5:c.3334G>T	ENSP00000438786.1:p.Gly1112Cys
ENST00000538660.5:c.2129-331G>T	ENSP00000438091.1:n.2129-331G>T
NM_001193640.1:c.3070G>T	NP_001180569.1:p.Gly1024Cys
NM_001257965.1:c.3334G>T	NP_001244894.1:p.Gly1112Cys
NM_001257966.1:c.2129-331G>T	NP_001244895.1:n.2129-331G>T
NM_201253.2:c.3406G>T	NP_957705.1:p.Gly1136Cys
NR_047563.1:n.3407G>T
NR_047564.1:n.3615G>T
XM_011509365.1:c.3406G>T	XP_011507667.1:p.Gly1136Cys
XM_011509366.1:c.3406G>T	XP_011507668.1:p.Gly1136Cys
XM_011509367.1:c.3406G>T	XP_011507669.1:p.Gly1136Cys
XM_011509368.1:c.2824G>T	XP_011507670.1:p.Gly942Cys
XM_011509369.1:c.1849G>T	XP_011507671.1:p.Gly617Cys
XM_011509365.2:c.3406G>T	XP_011507667.1:p.Gly1136Cys
XM_011509369.2:c.1849G>T	XP_011507671.1:p.Gly617Cys
XM_017000851.1:c.2563G>T	XP_016856340.1:p.Gly855Cys
XM_017000852.1:c.3541G>T	XP_016856341.1:p.Gly1181Cys
NM_201253.3:c.3406G>T MANE Select	NP_957705.1:p.Gly1136Cys
NM_001193640.2:c.3070G>T	NP_001180569.1:p.Gly1024Cys
NM_001257965.2:c.3334G>T	NP_001244894.1:p.Gly1112Cys
NR_047563.2:n.3359G>T
NR_047564.2:n.3567G>T
NM_001257966.2:c.2129-331G>T	NP_001244895.1:n.2129-331G>T