Canonical Allele Identifier: CA343907216

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186099193G>C (hg19) ; chr1:g.186130061G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186130061G>C , CM000663.2:g.186130061G>C	GRCh38
NC_000001.10:g.186099193G>C , CM000663.1:g.186099193G>C	GRCh37
NC_000001.9:g.184365816G>C	NCBI36
NG_011841.1:g.400511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.13000G>C MANE Select	ENSP00000271588.4:p.Val4334Leu
ENST00000271588.8:c.13000G>C	ENSP00000271588.4:p.Val4334Leu
NM_031935.2:c.13000G>C	NP_114141.2:p.Val4334Leu
XM_011510037.1:c.12715G>C	XP_011508339.1:p.Val4239Leu
XM_011510038.1:c.13000G>C	XP_011508340.1:p.Val4334Leu
XM_011510039.1:c.13000G>C	XP_011508341.1:p.Val4334Leu
XM_011510038.3:c.13000G>C	XP_011508340.1:p.Val4334Leu
XM_017002437.1:c.11023G>C	XP_016857926.1:p.Val3675Leu
NM_031935.3:c.13000G>C MANE Select	NP_114141.2:p.Val4334Leu