Canonical Allele Identifier: CA343907181

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186099186G>T (hg19) ; chr1:g.186130054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186130054G>T , CM000663.2:g.186130054G>T	GRCh38
NC_000001.10:g.186099186G>T , CM000663.1:g.186099186G>T	GRCh37
NC_000001.9:g.184365809G>T	NCBI36
NG_011841.1:g.400504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12993G>T MANE Select	ENSP00000271588.4:p.Glu4331Asp
ENST00000271588.8:c.12993G>T	ENSP00000271588.4:p.Glu4331Asp
NM_031935.2:c.12993G>T	NP_114141.2:p.Glu4331Asp
XM_011510037.1:c.12708G>T	XP_011508339.1:p.Glu4236Asp
XM_011510038.1:c.12993G>T	XP_011508340.1:p.Glu4331Asp
XM_011510039.1:c.12993G>T	XP_011508341.1:p.Glu4331Asp
XM_011510038.3:c.12993G>T	XP_011508340.1:p.Glu4331Asp
XM_017002437.1:c.11016G>T	XP_016857926.1:p.Glu3672Asp
NM_031935.3:c.12993G>T MANE Select	NP_114141.2:p.Glu4331Asp