Canonical Allele Identifier: CA343898593

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186008866C>G (hg19) ; chr1:g.186039734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186039734C>G , CM000663.2:g.186039734C>G	GRCh38
NC_000001.10:g.186008866C>G , CM000663.1:g.186008866C>G	GRCh37
NC_000001.9:g.184275489C>G	NCBI36
NG_011841.1:g.310184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.6035C>G MANE Select	ENSP00000271588.4:p.Pro2012Arg
ENST00000271588.8:c.6035C>G	ENSP00000271588.4:p.Pro2012Arg
NM_031935.2:c.6035C>G	NP_114141.2:p.Pro2012Arg
XM_011510037.1:c.6035C>G	XP_011508339.1:p.Pro2012Arg
XM_011510038.1:c.6035C>G	XP_011508340.1:p.Pro2012Arg
XM_011510039.1:c.6035C>G	XP_011508341.1:p.Pro2012Arg
XM_011510040.1:c.6035C>G	XP_011508342.1:p.Pro2012Arg
XM_011510041.1:c.6035C>G	XP_011508343.1:p.Pro2012Arg
XM_011510038.3:c.6035C>G	XP_011508340.1:p.Pro2012Arg
XM_011510041.3:c.6035C>G	XP_011508343.1:p.Pro2012Arg
XM_017002437.1:c.4058C>G	XP_016857926.1:p.Pro1353Arg
XM_024450118.1:c.6035C>G	XP_024305886.1:p.Pro2012Arg
NM_031935.3:c.6035C>G MANE Select	NP_114141.2:p.Pro2012Arg