Canonical Allele Identifier: CA343935034

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186143658G>T (hg19) ; chr1:g.186174526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174526G>T , CM000663.2:g.186174526G>T	GRCh38
NC_000001.10:g.186143658G>T , CM000663.1:g.186143658G>T	GRCh37
NC_000001.9:g.184410281G>T	NCBI36
NG_011841.1:g.444976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15827G>T MANE Select	ENSP00000271588.4:p.Cys5276Phe
ENST00000271588.8:c.15827G>T	ENSP00000271588.4:p.Cys5276Phe
ENST00000414277.1:c.203G>T	ENSP00000406205.1:p.Cys68Phe
NM_031935.2:c.15827G>T	NP_114141.2:p.Cys5276Phe
XM_011510037.1:c.15542G>T	XP_011508339.1:p.Cys5181Phe
XM_011510038.1:c.15827G>T	XP_011508340.1:p.Cys5276Phe
XM_011510038.3:c.15827G>T	XP_011508340.1:p.Cys5276Phe
XM_017002437.1:c.13850G>T	XP_016857926.1:p.Cys4617Phe
NM_031935.3:c.15827G>T MANE Select	NP_114141.2:p.Cys5276Phe