Canonical Allele Identifier: CA1292093

Gene: HMCN1

Linked Data

• dbSNP Id: rs778151873
• ExAC: 1:185984425 A / T
• gnomAD v2: 1-185984425-A-T
• MyVariant Identifiers: chr1:g.185984425A>T (hg19) ; chr1:g.186015293A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186015293A>T , CM000663.2:g.186015293A>T	GRCh38
NC_000001.10:g.185984425A>T , CM000663.1:g.185984425A>T	GRCh37
NC_000001.9:g.184251048A>T	NCBI36
NG_011841.1:g.285743A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.4765A>T MANE Select	ENSP00000271588.4:p.Met1589Leu
ENST00000271588.8:c.4765A>T	ENSP00000271588.4:p.Met1589Leu
NM_031935.2:c.4765A>T	NP_114141.2:p.Met1589Leu
XM_011510037.1:c.4765A>T	XP_011508339.1:p.Met1589Leu
XM_011510038.1:c.4765A>T	XP_011508340.1:p.Met1589Leu
XM_011510039.1:c.4765A>T	XP_011508341.1:p.Met1589Leu
XM_011510040.1:c.4765A>T	XP_011508342.1:p.Met1589Leu
XM_011510041.1:c.4765A>T	XP_011508343.1:p.Met1589Leu
XM_011510038.3:c.4765A>T	XP_011508340.1:p.Met1589Leu
XM_011510041.3:c.4765A>T	XP_011508343.1:p.Met1589Leu
XM_017002437.1:c.2788A>T	XP_016857926.1:p.Met930Leu
XM_024450118.1:c.4765A>T	XP_024305886.1:p.Met1589Leu
NM_031935.3:c.4765A>T MANE Select	NP_114141.2:p.Met1589Leu