Canonical Allele Identifier: CA4453801

Gene: TSPAN12

Linked Data

• dbSNP Id: rs774269963
• ExAC: 7:120428774 T / G
• gnomAD v2: 7-120428774-T-G
• MyVariant Identifiers: chr7:g.120428774T>G (hg19) ; chr7:g.120788720T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788720T>G , CM000669.2:g.120788720T>G	GRCh38
NC_000007.13:g.120428774T>G , CM000669.1:g.120428774T>G	GRCh37
NC_000007.12:g.120216010T>G	NCBI36
NG_023203.1:g.74404A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.790A>C MANE Select	ENSP00000222747.3:p.Lys264Gln
ENST00000222747.7:c.790A>C	ENSP00000222747.3:p.Lys264Gln
ENST00000415871.5:c.790A>C	ENSP00000397699.1:p.Lys264Gln
ENST00000450414.5:c.769A>C	ENSP00000397411.1:n.769A>C
NM_012338.3:c.790A>C	NP_036470.1:p.Lys264Gln
XM_005250239.1:c.790A>C	XP_005250296.1:p.Lys264Gln
XM_011515993.1:c.790A>C	XP_011514295.1:p.Lys264Gln
XM_011515994.1:c.790A>C	XP_011514296.1:p.Lys264Gln
XM_005250239.3:c.790A>C	XP_005250296.1:p.Lys264Gln
XM_017011913.1:c.715A>C	XP_016867402.1:p.Lys239Gln
NM_012338.4:c.790A>C MANE Select	NP_036470.1:p.Lys264Gln