Canonical Allele Identifier: CA391668861

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39588157C>A , CM000677.2:g.39588157C>A	GRCh38
NC_000015.9:g.39880358C>A , CM000677.1:g.39880358C>A	GRCh37
NC_000015.8:g.37667650C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003246.4:c.1410C>A MANE Select	NP_003237.2:p.Asn470Lys
ENST00000260356.6:c.1410C>A MANE Select	ENSP00000260356.5:p.Asn470Lys
NM_003246.2:c.1410C>A	NP_003237.2:p.Asn470Lys
NM_003246.3:c.1410C>A	NP_003237.2:p.Asn470Lys
ENST00000260356.5:c.1410C>A	ENSP00000260356.5:p.Asn470Lys
ENST00000466755.1:n.185C>A
ENST00000497720.1:n.206C>A
XM_011521970.1:c.1410C>A	XP_011520272.1:p.Asn470Lys
XM_011521971.1:c.1410C>A	XP_011520273.1:p.Asn470Lys
XM_011521971.2:c.1410C>A	XP_011520273.1:p.Asn470Lys
XR_931897.1:n.1585C>A