Canonical Allele Identifier: CA1181671

Gene: OR10Z1 SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158611296C>T , CM000663.2:g.158611296C>T	GRCh38
NC_000001.10:g.158581086C>T , CM000663.1:g.158581086C>T	GRCh37
NC_000001.9:g.156847710C>T	NCBI36
NG_011474.1:g.80421G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001004478.2:c.*3916C>T (OR10Z1) MANE Select	NP_001004478.1:n.*3916C>T
NM_003126.4:c.7228G>A (SPTA1) MANE Select	NP_003117.2:p.Val2410Ile
ENST00000641002.1:c.*3916C>T (OR10Z1) MANE Select	ENSP00000493003.1:n.*3916C>T
ENST00000643759.2:c.7228G>A (SPTA1) MANE Select	ENSP00000495214.1:p.Val2410Ile
NM_003126.2:c.7228G>A (SPTA1)	NP_003117.2:p.Val2410Ile
NM_003126.3:c.7228G>A (SPTA1)	NP_003117.2:p.Val2410Ile
ENST00000368147.8:c.7228G>A (SPTA1)	ENSP00000357129.4:p.Val2410Ile
ENST00000485680.1:n.334G>A (SPTA1)
ENST00000614909.4:c.7227G>A (SPTA1)	ENSP00000482595.1:p.Thr2409=
XM_011509916.1:c.7228G>A (SPTA1)	XP_011508218.1:p.Val2410Ile
XM_011509916.2:c.7228G>A (SPTA1)	XP_011508218.1:p.Val2410Ile
XM_011509917.1:c.7210G>A (SPTA1)	XP_011508219.1:p.Val2404Ile
XM_011509917.3:c.7210G>A (SPTA1)	XP_011508219.1:p.Val2404Ile