Canonical Allele Identifier: CA343935151

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186143666G>T (hg19) ; chr1:g.186174534G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174534G>T , CM000663.2:g.186174534G>T	GRCh38
NC_000001.10:g.186143666G>T , CM000663.1:g.186143666G>T	GRCh37
NC_000001.9:g.184410289G>T	NCBI36
NG_011841.1:g.444984G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15835G>T MANE Select	ENSP00000271588.4:p.Gly5279Trp
ENST00000271588.8:c.15835G>T	ENSP00000271588.4:p.Gly5279Trp
ENST00000414277.1:c.211G>T	ENSP00000406205.1:p.Gly71Trp
NM_031935.2:c.15835G>T	NP_114141.2:p.Gly5279Trp
XM_011510037.1:c.15550G>T	XP_011508339.1:p.Gly5184Trp
XM_011510038.1:c.15835G>T	XP_011508340.1:p.Gly5279Trp
XM_011510038.3:c.15835G>T	XP_011508340.1:p.Gly5279Trp
XM_017002437.1:c.13858G>T	XP_016857926.1:p.Gly4620Trp
NM_031935.3:c.15835G>T MANE Select	NP_114141.2:p.Gly5279Trp