Canonical Allele Identifier: CA401686914

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2738443T>C , CM000680.2:g.2738443T>C	GRCh38
NC_000018.9:g.2738441T>C , CM000680.1:g.2738441T>C	GRCh37
NC_000018.8:g.2728441T>C	NCBI36
NG_031972.1:g.87556T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.3323T>C MANE Select	NP_056110.2:p.Leu1108Pro
ENST00000320876.11:c.3323T>C MANE Select	ENSP00000326603.7:p.Leu1108Pro
NM_015295.2:c.3323T>C	NP_056110.2:p.Leu1108Pro
ENST00000320876.10:c.3323T>C	ENSP00000326603.6:p.Leu1108Pro
ENST00000577880.5:c.1736T>C	ENSP00000463049.1:p.Leu579Pro
ENST00000581631.1:n.593T>C
ENST00000583441.2:n.1009T>C
ENST00000584897.5:c.1143T>C
ENST00000686763.1:c.128T>C	ENSP00000510263.1:p.Leu43Pro
ENST00000686864.1:c.85T>C
ENST00000688342.1:c.3323T>C	ENSP00000508422.1:p.Leu1108Pro
ENST00000688708.1:n.1979T>C
ENST00000690757.1:n.780T>C
ENST00000693213.1:n.2601T>C
XM_011525642.1:c.3323T>C	XP_011523944.1:p.Leu1108Pro
XM_011525643.1:c.3323T>C	XP_011523945.1:p.Leu1108Pro
XM_011525643.2:c.3323T>C	XP_011523945.1:p.Leu1108Pro
XM_011525644.1:c.2939T>C	XP_011523946.1:p.Leu980Pro
XM_011525645.1:c.2759T>C	XP_011523947.1:p.Leu920Pro
XM_011525646.1:c.3323T>C	XP_011523948.1:p.Leu1108Pro
XM_011525647.1:c.3323T>C	XP_011523949.1:p.Leu1108Pro
XM_017025684.1:c.2759T>C	XP_016881173.1:p.Leu920Pro
XR_001753172.1:n.3512T>C
XR_001753173.1:n.3512T>C
XR_001753174.1:n.3512T>C
XR_001753175.1:n.3512T>C
XR_001753176.1:n.3512T>C
XR_001753177.1:n.3512T>C
XR_001753178.1:n.3512T>C
XR_001753179.1:n.3512T>C
XR_430039.1:n.3512T>C
XR_935054.1:n.3512T>C
XR_935055.1:n.3512T>C
XR_935055.2:n.3512T>C