Canonical Allele Identifier: CA343935050

Gene: HMCN1

Linked Data

• gnomAD v4: 1-186174528-A-G
• MyVariant Identifiers: chr1:g.186143660A>G (hg19) ; chr1:g.186174528A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174528A>G , CM000663.2:g.186174528A>G	GRCh38
NC_000001.10:g.186143660A>G , CM000663.1:g.186143660A>G	GRCh37
NC_000001.9:g.184410283A>G	NCBI36
NG_011841.1:g.444978A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15829A>G MANE Select	ENSP00000271588.4:p.Lys5277Glu
ENST00000271588.8:c.15829A>G	ENSP00000271588.4:p.Lys5277Glu
ENST00000414277.1:c.205A>G	ENSP00000406205.1:p.Lys69Glu
NM_031935.2:c.15829A>G	NP_114141.2:p.Lys5277Glu
XM_011510037.1:c.15544A>G	XP_011508339.1:p.Lys5182Glu
XM_011510038.1:c.15829A>G	XP_011508340.1:p.Lys5277Glu
XM_011510038.3:c.15829A>G	XP_011508340.1:p.Lys5277Glu
XM_017002437.1:c.13852A>G	XP_016857926.1:p.Lys4618Glu
NM_031935.3:c.15829A>G MANE Select	NP_114141.2:p.Lys5277Glu