Canonical Allele Identifier: CA343929719

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186135938A>T (hg19) ; chr1:g.186166806A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186166806A>T , CM000663.2:g.186166806A>T	GRCh38
NC_000001.10:g.186135938A>T , CM000663.1:g.186135938A>T	GRCh37
NC_000001.9:g.184402561A>T	NCBI36
NG_011841.1:g.437256A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15440-2A>T MANE Select	ENSP00000271588.4:n.15440-2A>T
ENST00000271588.8:c.15440-2A>T	ENSP00000271588.4:n.15440-2A>T
ENST00000475585.1:n.163-4531A>T
NM_031935.2:c.15440-2A>T	NP_114141.2:n.15440-2A>T
XM_011510037.1:c.15155-2A>T	XP_011508339.1:n.15155-2A>T
XM_011510038.1:c.15440-2A>T	XP_011508340.1:n.15440-2A>T
XM_011510038.3:c.15440-2A>T	XP_011508340.1:n.15440-2A>T
XM_017002437.1:c.13463-2A>T	XP_016857926.1:n.13463-2A>T
NM_031935.3:c.15440-2A>T MANE Select	NP_114141.2:n.15440-2A>T