Canonical Allele Identifier: CA401694685

Gene: SMCHD1

Linked Data

• MyVariant Identifiers: chr18:g.2694598A>C (hg19) ; chr18:g.2694600A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694600A>C , CM000680.2:g.2694600A>C	GRCh38
NC_000018.9:g.2694598A>C , CM000680.1:g.2694598A>C	GRCh37
NC_000018.8:g.2684598A>C	NCBI36
NG_031972.1:g.43713A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.1104A>C
ENST00000688342.1:c.947A>C	ENSP00000508422.1:p.Lys316Thr
ENST00000693213.1:n.225A>C
ENST00000320876.11:c.947A>C MANE Select	ENSP00000326603.7:p.Lys316Thr
ENST00000320876.10:c.947A>C	ENSP00000326603.6:p.Lys316Thr
ENST00000581226.1:n.181A>C
NM_015295.2:c.947A>C	NP_056110.2:p.Lys316Thr
XM_011525642.1:c.947A>C	XP_011523944.1:p.Lys316Thr
XM_011525643.1:c.947A>C	XP_011523945.1:p.Lys316Thr
XM_011525644.1:c.563A>C	XP_011523946.1:p.Lys188Thr
XM_011525645.1:c.383A>C	XP_011523947.1:p.Lys128Thr
XM_011525646.1:c.947A>C	XP_011523948.1:p.Lys316Thr
XM_011525647.1:c.947A>C	XP_011523949.1:p.Lys316Thr
XR_430039.1:n.1136A>C
XR_935054.1:n.1136A>C
XR_935055.1:n.1136A>C
XM_011525643.2:c.947A>C	XP_011523945.1:p.Lys316Thr
XM_017025684.1:c.383A>C	XP_016881173.1:p.Lys128Thr
XR_001753172.1:n.1136A>C
XR_001753173.1:n.1136A>C
XR_001753174.1:n.1136A>C
XR_001753175.1:n.1136A>C
XR_001753176.1:n.1136A>C
XR_001753177.1:n.1136A>C
XR_001753178.1:n.1136A>C
XR_001753179.1:n.1136A>C
XR_935055.2:n.1136A>C
NM_015295.3:c.947A>C MANE Select	NP_056110.2:p.Lys316Thr