Canonical Allele Identifier: CA343870935

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.185964009A>C (hg19) ; chr1:g.185994877A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185994877A>C , CM000663.2:g.185994877A>C	GRCh38
NC_000001.10:g.185964009A>C , CM000663.1:g.185964009A>C	GRCh37
NC_000001.9:g.184230632A>C	NCBI36
NG_011841.1:g.265327A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.3568A>C MANE Select	ENSP00000271588.4:p.Ile1190Leu
ENST00000271588.8:c.3568A>C	ENSP00000271588.4:p.Ile1190Leu
NM_031935.2:c.3568A>C	NP_114141.2:p.Ile1190Leu
XM_011510037.1:c.3568A>C	XP_011508339.1:p.Ile1190Leu
XM_011510038.1:c.3568A>C	XP_011508340.1:p.Ile1190Leu
XM_011510039.1:c.3568A>C	XP_011508341.1:p.Ile1190Leu
XM_011510040.1:c.3568A>C	XP_011508342.1:p.Ile1190Leu
XM_011510041.1:c.3568A>C	XP_011508343.1:p.Ile1190Leu
XM_011510038.3:c.3568A>C	XP_011508340.1:p.Ile1190Leu
XM_011510041.3:c.3568A>C	XP_011508343.1:p.Ile1190Leu
XM_017002437.1:c.1591A>C	XP_016857926.1:p.Ile531Leu
XM_024450118.1:c.3568A>C	XP_024305886.1:p.Ile1190Leu
NM_031935.3:c.3568A>C MANE Select	NP_114141.2:p.Ile1190Leu