Canonical Allele Identifier: CA422514528
Gene: HMCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.186092087T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186122955T>C , CM000663.2:g.186122955T>C GRCh38
NC_000001.10:g.186092087T>C , CM000663.1:g.186092087T>C GRCh37
NC_000001.9:g.184358710T>C NCBI36
NG_011841.1:g.393405T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12234T>C MANE Select ENSP00000271588.4:p.Pro4078=
ENST00000271588.8:c.12234T>C ENSP00000271588.4:p.Pro4078=
NM_031935.2:c.12234T>C NP_114141.2:p.Pro4078=
XM_011510037.1:c.11949T>C XP_011508339.1:p.Pro3983=
XM_011510038.1:c.12234T>C XP_011508340.1:p.Pro4078=
XM_011510039.1:c.12234T>C XP_011508341.1:p.Pro4078=
XM_011510038.3:c.12234T>C XP_011508340.1:p.Pro4078=
XM_017002437.1:c.10257T>C XP_016857926.1:p.Pro3419=
NM_031935.3:c.12234T>C MANE Select NP_114141.2:p.Pro4078=