Canonical Allele Identifier: CA343931434

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186064629A>T (hg19) ; chr1:g.186095497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186095497A>T , CM000663.2:g.186095497A>T	GRCh38
NC_000001.10:g.186064629A>T , CM000663.1:g.186064629A>T	GRCh37
NC_000001.9:g.184331252A>T	NCBI36
NG_011841.1:g.365947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.10549A>T MANE Select	ENSP00000271588.4:p.Lys3517Ter
ENST00000271588.8:c.10549A>T	ENSP00000271588.4:p.Lys3517Ter
NM_031935.2:c.10549A>T	NP_114141.2:p.Lys3517Ter
XM_011510037.1:c.10264A>T	XP_011508339.1:p.Lys3422Ter
XM_011510038.1:c.10549A>T	XP_011508340.1:p.Lys3517Ter
XM_011510039.1:c.10549A>T	XP_011508341.1:p.Lys3517Ter
XM_011510038.3:c.10549A>T	XP_011508340.1:p.Lys3517Ter
XM_017002437.1:c.8572A>T	XP_016857926.1:p.Lys2858Ter
NM_031935.3:c.10549A>T MANE Select	NP_114141.2:p.Lys3517Ter