Canonical Allele Identifier: CA172497

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 158829
• ClinVar RCV Id: RCV000146284 ; RCV000306064 ; RCV000967076
• dbSNP Id: rs186547090
• ExAC: 8:6312683 A / C
• gnomAD v2: 8-6312683-A-C
• gnomAD v3: 8-6455162-A-C
• gnomAD v4: 8-6455162-A-C
• MyVariant Identifiers: chr8:g.6312683A>C (hg19) ; chr8:g.6455162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6455162A>C , CM000670.2:g.6455162A>C	GRCh38
NC_000008.10:g.6312683A>C , CM000670.1:g.6312683A>C	GRCh37
NC_000008.9:g.6300091A>C	NCBI36
NG_016619.1:g.53571A>C
NG_016619.2:g.53571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687720.1:c.*1793A>C	ENSP00000510728.1:n.*1793A>C
ENST00000687874.1:n.705A>C
ENST00000688101.1:c.1265A>C
ENST00000688388.1:c.1845A>C	ENSP00000510092.1:p.Thr615=
ENST00000688658.1:n.685A>C
ENST00000688912.1:n.1856A>C
ENST00000689348.1:c.1845A>C	ENSP00000509554.1:p.Thr615=
ENST00000689633.1:c.1845A>C	ENSP00000509054.1:p.Thr615=
ENST00000689736.1:c.690A>C	ENSP00000509722.1:p.Thr230=
ENST00000690159.1:c.*2124A>C	ENSP00000510482.1:n.*2124A>C
ENST00000690708.1:c.690A>C	ENSP00000510400.1:p.Thr230=
ENST00000690826.1:c.1845A>C	ENSP00000510536.1:p.Thr615=
ENST00000691435.1:c.1845A>C	ENSP00000510652.1:p.Thr615=
ENST00000691655.1:c.*700A>C	ENSP00000509652.1:n.*700A>C
ENST00000692534.1:c.223A>C
ENST00000692836.1:c.1845A>C	ENSP00000509971.1:p.Thr615=
ENST00000692938.1:c.1845A>C	ENSP00000509072.1:p.Thr615=
ENST00000693231.1:c.*1585A>C	ENSP00000510764.1:n.*1585A>C
ENST00000693528.1:n.78A>C
ENST00000344683.10:c.1845A>C MANE Select	ENSP00000342924.5:p.Thr615=
ENST00000344683.9:c.1845A>C	ENSP00000342924.5:p.Thr615=
NM_024596.3:c.1845A>C	NP_078872.2:p.Thr615=
XM_011534755.1:c.1845A>C	XP_011533057.1:p.Thr615=
XM_011534756.1:c.1845A>C	XP_011533058.1:p.Thr615=
XM_011534757.1:c.1845A>C	XP_011533059.1:p.Thr615=
XM_011534758.1:c.1845A>C	XP_011533060.1:p.Thr615=
XM_011534759.1:c.1845A>C	XP_011533061.1:p.Thr615=
XM_011534760.1:c.1320A>C	XP_011533062.1:p.Thr440=
NM_001322042.1:c.1845A>C	NP_001308971.1:p.Thr615=
NM_001363979.1:c.1845A>C	NP_001350908.1:p.Thr615=
NM_001363980.1:c.1845A>C	NP_001350909.1:p.Thr615=
NM_024596.4:c.1845A>C	NP_078872.2:p.Thr615=
XM_011534755.3:c.1845A>C	XP_011533057.1:p.Thr615=
XM_011534756.3:c.1845A>C	XP_011533058.1:p.Thr615=
XM_011534757.3:c.1845A>C	XP_011533059.1:p.Thr615=
XM_011534758.3:c.1845A>C	XP_011533060.1:p.Thr615=
XM_011534759.3:c.1845A>C	XP_011533061.1:p.Thr615=
XM_011534760.2:c.1320A>C	XP_011533062.1:p.Thr440=
XM_017013829.2:c.1845A>C	XP_016869318.1:p.Thr615=
XM_017013831.2:c.1845A>C	XP_016869320.1:p.Thr615=
XM_017013832.2:c.1845A>C	XP_016869321.1:p.Thr615=
XM_017013833.2:c.1845A>C	XP_016869322.1:p.Thr615=
XR_001745596.2:n.1898A>C
NM_024596.5:c.1845A>C MANE Select	NP_078872.3:p.Thr615=
NM_001322042.2:c.1845A>C	NP_001308971.2:p.Thr615=
NM_001363980.2:c.1845A>C	NP_001350909.1:p.Thr615=