Canonical Allele Identifier: CA343935049

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186143660A>C (hg19) ; chr1:g.186174528A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15829A>C MANE Select	ENSP00000271588.4:p.Lys5277Gln
ENST00000271588.8:c.15829A>C	ENSP00000271588.4:p.Lys5277Gln
ENST00000414277.1:c.205A>C	ENSP00000406205.1:p.Lys69Gln
NM_031935.2:c.15829A>C	NP_114141.2:p.Lys5277Gln
XM_011510037.1:c.15544A>C	XP_011508339.1:p.Lys5182Gln
XM_011510038.1:c.15829A>C	XP_011508340.1:p.Lys5277Gln
XM_011510038.3:c.15829A>C	XP_011508340.1:p.Lys5277Gln
XM_017002437.1:c.13852A>C	XP_016857926.1:p.Lys4618Gln
NM_031935.3:c.15829A>C MANE Select	NP_114141.2:p.Lys5277Gln