Canonical Allele Identifier: CA343870005

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.185962379A>C (hg19) ; chr1:g.185993247A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185993247A>C , CM000663.2:g.185993247A>C	GRCh38
NC_000001.10:g.185962379A>C , CM000663.1:g.185962379A>C	GRCh37
NC_000001.9:g.184229002A>C	NCBI36
NG_011841.1:g.263697A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.3443A>C MANE Select	ENSP00000271588.4:p.Tyr1148Ser
ENST00000271588.8:c.3443A>C	ENSP00000271588.4:p.Tyr1148Ser
ENST00000485744.5:n.1694A>C
NM_031935.2:c.3443A>C	NP_114141.2:p.Tyr1148Ser
XM_011510037.1:c.3443A>C	XP_011508339.1:p.Tyr1148Ser
XM_011510038.1:c.3443A>C	XP_011508340.1:p.Tyr1148Ser
XM_011510039.1:c.3443A>C	XP_011508341.1:p.Tyr1148Ser
XM_011510040.1:c.3443A>C	XP_011508342.1:p.Tyr1148Ser
XM_011510041.1:c.3443A>C	XP_011508343.1:p.Tyr1148Ser
XM_011510038.3:c.3443A>C	XP_011508340.1:p.Tyr1148Ser
XM_011510041.3:c.3443A>C	XP_011508343.1:p.Tyr1148Ser
XM_017002437.1:c.1466A>C	XP_016857926.1:p.Tyr489Ser
XM_024450118.1:c.3443A>C	XP_024305886.1:p.Tyr1148Ser
NM_031935.3:c.3443A>C MANE Select	NP_114141.2:p.Tyr1148Ser