Canonical Allele Identifier: CA1011384

Gene: SLC16A1

Linked Data

• dbSNP Id: rs770751174
• ExAC: 1:113460336 G / GT
• gnomAD v4: 1-112917714-G-GT
• MyVariant Identifiers: chr1:g.113460336_113460337insT (hg19) ; chr1:g.112917714_112917715insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917715dup , CM000663.2:g.112917715dup	GRCh38
NC_000001.10:g.113460337dup , CM000663.1:g.113460337dup	GRCh37
NC_000001.9:g.113261860dup	NCBI36
NG_015880.2:g.43214dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.691dup MANE Select	ENSP00000358640.4:p.Thr231AsnfsTer9
ENST00000429288.2:c.691dup	ENSP00000397106.2:p.Thr231AsnfsTer9
ENST00000443580.6:c.691dup	ENSP00000399104.2:p.Thr231AsnfsTer9
ENST00000458229.6:c.691dup	ENSP00000416167.2:p.Thr231AsnfsTer9
ENST00000679803.1:c.691dup	ENSP00000505879.1:p.Thr231AsnfsTer9
ENST00000679846.1:n.1608dup
ENST00000369626.7:c.691dup	ENSP00000358640.3:p.Thr231AsnfsTer9
ENST00000443580.5:c.691dup	ENSP00000399104.1:p.Thr231AsnfsTer9
ENST00000458229.5:c.691dup	ENSP00000416167.1:p.Thr231AsnfsTer9
ENST00000538576.5:c.691dup	ENSP00000441065.1:p.Thr231AsnfsTer9
NM_001166496.1:c.691dup	NP_001159968.1:p.Thr231AsnfsTer9
NM_003051.3:c.691dup	NP_003042.3:p.Thr231AsnfsTer9
XM_011542026.1:c.691dup	XP_011540328.1:p.Thr231AsnfsTer9
XM_011542027.1:c.691dup	XP_011540329.1:p.Thr231AsnfsTer9
NM_003051.4:c.691dup MANE Select	NP_003042.3:p.Thr231AsnfsTer9
NM_001166496.2:c.691dup	NP_001159968.1:p.Thr231AsnfsTer9