Canonical Allele Identifier: CA343907167

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186099184G>A (hg19) ; chr1:g.186130052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186130052G>A , CM000663.2:g.186130052G>A	GRCh38
NC_000001.10:g.186099184G>A , CM000663.1:g.186099184G>A	GRCh37
NC_000001.9:g.184365807G>A	NCBI36
NG_011841.1:g.400502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12991G>A MANE Select	ENSP00000271588.4:p.Glu4331Lys
ENST00000271588.8:c.12991G>A	ENSP00000271588.4:p.Glu4331Lys
NM_031935.2:c.12991G>A	NP_114141.2:p.Glu4331Lys
XM_011510037.1:c.12706G>A	XP_011508339.1:p.Glu4236Lys
XM_011510038.1:c.12991G>A	XP_011508340.1:p.Glu4331Lys
XM_011510039.1:c.12991G>A	XP_011508341.1:p.Glu4331Lys
XM_011510038.3:c.12991G>A	XP_011508340.1:p.Glu4331Lys
XM_017002437.1:c.11014G>A	XP_016857926.1:p.Glu3672Lys
NM_031935.3:c.12991G>A MANE Select	NP_114141.2:p.Glu4331Lys