Canonical Allele Identifier: CA401691583

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2796440T>G , CM000680.2:g.2796440T>G	GRCh38
NC_000018.9:g.2796438T>G , CM000680.1:g.2796438T>G	GRCh37
NC_000018.8:g.2786438T>G	NCBI36
NG_031972.1:g.145553T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.5912T>G MANE Select	NP_056110.2:p.Leu1971Trp
ENST00000320876.11:c.5912T>G MANE Select	ENSP00000326603.7:p.Leu1971Trp
NM_015295.2:c.5912T>G	NP_056110.2:p.Leu1971Trp
ENST00000320876.10:c.5912T>G	ENSP00000326603.6:p.Leu1971Trp
ENST00000577880.5:c.4468T>G	ENSP00000463049.1:n.4468T>G
ENST00000583800.1:c.43T>G
ENST00000584897.5:c.3661T>G
ENST00000642953.1:c.814T>G
ENST00000645355.1:c.1957T>G
ENST00000685656.1:n.2219T>G
ENST00000686763.1:c.*1471T>G	ENSP00000510263.1:n.*1471T>G
ENST00000686864.1:c.2603T>G
ENST00000688342.1:c.5780T>G	ENSP00000508422.1:p.Leu1927Trp
ENST00000688708.1:n.4641T>G
ENST00000688964.1:n.2421T>G
ENST00000689034.1:n.3859T>G
ENST00000689800.1:n.2029T>G
XM_011525642.1:c.5912T>G	XP_011523944.1:p.Leu1971Trp
XM_011525643.1:c.5912T>G	XP_011523945.1:p.Leu1971Trp
XM_011525643.2:c.5912T>G	XP_011523945.1:p.Leu1971Trp
XM_011525644.1:c.5528T>G	XP_011523946.1:p.Leu1843Trp
XM_011525645.1:c.5348T>G	XP_011523947.1:p.Leu1783Trp
XM_017025684.1:c.5348T>G	XP_016881173.1:p.Leu1783Trp
XR_001753172.1:n.6101T>G
XR_001753173.1:n.6101T>G
XR_001753174.1:n.6030T>G
XR_001753175.1:n.6030T>G
XR_001753176.1:n.5910T>G
XR_001753177.1:n.6013T>G
XR_001753178.1:n.5950T>G
XR_430039.1:n.6030T>G