Canonical Allele Identifier: CA172500

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 158834
• ClinVar RCV Id: RCV000146289 ; RCV000301716
• dbSNP Id: rs12674488
• ExAC: 8:6338306 C / A
• gnomAD v2: 8-6338306-C-A
• gnomAD v3: 8-6480785-C-A
• gnomAD v4: 8-6480785-C-A
• MyVariant Identifiers: chr8:g.6338306C>A (hg19) ; chr8:g.6480785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6480785C>A , CM000670.2:g.6480785C>A	GRCh38
NC_000008.10:g.6338306C>A , CM000670.1:g.6338306C>A	GRCh37
NC_000008.9:g.6325714C>A	NCBI36
NG_016619.1:g.79194C>A
NG_016619.2:g.79194C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000519221.6:n.271C>A
ENST00000521129.2:c.92C>A	ENSP00000509664.1:p.Thr31Asn
ENST00000521175.2:n.768C>A
ENST00000522020.2:n.52-13339C>A
ENST00000687324.1:n.983C>A
ENST00000687413.1:c.134C>A	ENSP00000510583.1:p.Thr45Asn
ENST00000687720.1:c.*1993C>A	ENSP00000510728.1:n.*1993C>A
ENST00000688101.1:c.2202C>A
ENST00000688388.1:c.*34C>A	ENSP00000510092.1:n.*34C>A
ENST00000688912.1:n.2056C>A
ENST00000689148.1:n.1005C>A
ENST00000689348.1:c.2045C>A	ENSP00000509554.1:p.Thr682Asn
ENST00000689633.1:c.1935+25533C>A	ENSP00000509054.1:n.1935+25533C>A
ENST00000689736.1:c.781-19067C>A	ENSP00000509722.1:n.781-19067C>A
ENST00000690159.1:c.*2324C>A	ENSP00000510482.1:n.*2324C>A
ENST00000690708.1:c.890C>A	ENSP00000510400.1:p.Thr297Asn
ENST00000690826.1:c.2045C>A	ENSP00000510536.1:p.Thr682Asn
ENST00000691435.1:c.2045C>A	ENSP00000510652.1:p.Thr682Asn
ENST00000691655.1:c.*982C>A	ENSP00000509652.1:n.*982C>A
ENST00000692836.1:c.2045C>A	ENSP00000509971.1:p.Thr682Asn
ENST00000692938.1:c.2045C>A	ENSP00000509072.1:p.Thr682Asn
ENST00000693231.1:c.*1675+25533C>A	ENSP00000510764.1:n.*1675+25533C>A
ENST00000693528.1:n.278C>A
ENST00000344683.10:c.2045C>A MANE Select	ENSP00000342924.5:p.Thr682Asn
ENST00000344683.9:c.2045C>A	ENSP00000342924.5:p.Thr682Asn
ENST00000519221.5:n.152C>A
ENST00000521129.1:n.203C>A
ENST00000522020.1:n.52-13339C>A
NM_024596.3:c.2045C>A	NP_078872.2:p.Thr682Asn
XM_011534755.1:c.2045C>A	XP_011533057.1:p.Thr682Asn
XM_011534756.1:c.2045C>A	XP_011533058.1:p.Thr682Asn
XM_011534757.1:c.2045C>A	XP_011533059.1:p.Thr682Asn
XM_011534758.1:c.2045C>A	XP_011533060.1:p.Thr682Asn
XM_011534759.1:c.2045C>A	XP_011533061.1:p.Thr682Asn
XM_011534760.1:c.1520C>A	XP_011533062.1:p.Thr507Asn
NM_001322042.1:c.2045C>A	NP_001308971.1:p.Thr682Asn
NM_001363979.1:c.2045C>A	NP_001350908.1:p.Thr682Asn
NM_001363980.1:c.1935+25533C>A	NP_001350909.1:n.1935+25533C>A
NM_024596.4:c.2045C>A	NP_078872.2:p.Thr682Asn
XM_011534755.3:c.2045C>A	XP_011533057.1:p.Thr682Asn
XM_011534756.3:c.2045C>A	XP_011533058.1:p.Thr682Asn
XM_011534757.3:c.2045C>A	XP_011533059.1:p.Thr682Asn
XM_011534758.3:c.2045C>A	XP_011533060.1:p.Thr682Asn
XM_011534759.3:c.2045C>A	XP_011533061.1:p.Thr682Asn
XM_011534760.2:c.1520C>A	XP_011533062.1:p.Thr507Asn
XM_017013829.2:c.2045C>A	XP_016869318.1:p.Thr682Asn
XM_017013831.2:c.1936-19067C>A	XP_016869320.1:n.1936-19067C>A
XM_017013832.2:c.1935+25533C>A	XP_016869321.1:n.1935+25533C>A
XM_017013833.2:c.2045C>A	XP_016869322.1:p.Thr682Asn
XR_001745596.2:n.2098C>A
NM_024596.5:c.2045C>A MANE Select	NP_078872.3:p.Thr682Asn
NM_001322042.2:c.2045C>A	NP_001308971.2:p.Thr682Asn
NM_001363980.2:c.1935+25533C>A	NP_001350909.1:n.1935+25533C>A