Canonical Allele Identifier: CA1676930215

Gene: SLC22A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154880G= , CM000668.2:g.160154880G=	GRCh38
NC_000006.11:g.160575912G= , CM000668.1:g.160575912G=	GRCh37
NC_000006.10:g.160495902G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1468G= MANE Select	ENSP00000355930.4:p.Val490=
ENST00000324965.8:c.1386-1095G=	ENSP00000318103.4:n.1386-1095G=
ENST00000366963.8:c.1468G=	ENSP00000355930.4:p.Val490=
ENST00000457470.6:c.1386-3636G=	ENSP00000409557.2:n.1386-3636G=
ENST00000460902.2:c.1253G=	ENSP00000439274.1:n.1253G=
ENST00000539263.5:c.*941G=	ENSP00000443245.1:n.*941G=
NM_003057.2:c.1468G=	NP_003048.1:p.Val490=
NM_153187.1:c.1386-1095G=	NP_694857.1:n.1386-1095G=
XM_005267102.3:c.1468G=	XP_005267159.1:p.Val490=
XM_005267103.1:c.1468G=	XP_005267160.1:p.Val490=
XM_005267104.3:c.892G=	XP_005267161.1:p.Val298=
XM_005267105.3:c.892G=	XP_005267162.1:p.Val298=
XM_006715552.1:c.1386-3636G=	XP_006715615.1:n.1386-3636G=
XM_011536074.1:c.892G=	XP_011534376.1:p.Val298=
XM_005267102.5:c.1468G=	XP_005267159.1:p.Val490=
XM_005267103.2:c.1468G=	XP_005267160.1:p.Val490=
XM_005267104.5:c.892G=	XP_005267161.1:p.Val298=
XM_005267105.5:c.892G=	XP_005267162.1:p.Val298=
XM_006715552.2:c.1386-3636G=	XP_006715615.1:n.1386-3636G=
XM_011536074.3:c.892G=	XP_011534376.1:p.Val298=
NM_003057.3:c.1468G= MANE Select	NP_003048.1:p.Val490=
NM_153187.2:c.1386-1095G=	NP_694857.1:n.1386-1095G=