Canonical Allele Identifier: CA370215395

Gene: MCPH1

Linked Data

• dbSNP Id: rs199422124
• gnomAD v2: 8-6266857-C-T
• gnomAD v3: 8-6409336-C-T
• gnomAD v4: 8-6409336-C-T
• MyVariant Identifiers: chr8:g.6266857C>T (hg19) ; chr8:g.6409336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6409336C>T , CM000670.2:g.6409336C>T	GRCh38
NC_000008.10:g.6266857C>T , CM000670.1:g.6266857C>T	GRCh37
NC_000008.9:g.6254265C>T	NCBI36
NG_016619.1:g.7745C>T
NG_016619.2:g.7745C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000519480.6:c.80C>T	ENSP00000430962.1:p.Thr27Ile
ENST00000684782.1:n.135C>T
ENST00000685179.1:c.74C>T	ENSP00000510001.1:p.Thr25Ile
ENST00000686750.1:c.80C>T	ENSP00000509053.1:p.Thr27Ile
ENST00000687720.1:c.80C>T	ENSP00000510728.1:p.Thr27Ile
ENST00000687874.1:n.95C>T
ENST00000688099.1:c.*359C>T	ENSP00000509622.1:n.*359C>T
ENST00000688388.1:c.80C>T	ENSP00000510092.1:p.Thr27Ile
ENST00000688452.1:c.80C>T	ENSP00000510556.1:p.Thr27Ile
ENST00000688912.1:n.91C>T
ENST00000689348.1:c.80C>T	ENSP00000509554.1:p.Thr27Ile
ENST00000689633.1:c.80C>T	ENSP00000509054.1:p.Thr27Ile
ENST00000689736.1:c.80C>T	ENSP00000509722.1:p.Thr27Ile
ENST00000690159.1:c.*359C>T	ENSP00000510482.1:n.*359C>T
ENST00000690518.1:c.80C>T	ENSP00000509135.1:p.Thr27Ile
ENST00000690682.1:c.80C>T	ENSP00000509896.1:p.Thr27Ile
ENST00000690708.1:c.80C>T	ENSP00000510400.1:p.Thr27Ile
ENST00000690826.1:c.80C>T	ENSP00000510536.1:p.Thr27Ile
ENST00000691435.1:c.80C>T	ENSP00000510652.1:p.Thr27Ile
ENST00000691655.1:c.*90C>T	ENSP00000509652.1:n.*90C>T
ENST00000692836.1:c.80C>T	ENSP00000509971.1:p.Thr27Ile
ENST00000692938.1:c.80C>T	ENSP00000509072.1:p.Thr27Ile
ENST00000693231.1:c.80C>T	ENSP00000510764.1:p.Thr27Ile
ENST00000344683.10:c.80C>T MANE Select	ENSP00000342924.5:p.Thr27Ile
ENST00000344683.9:c.80C>T	ENSP00000342924.5:p.Thr27Ile
ENST00000519480.5:c.80C>T	ENSP00000430962.1:p.Thr27Ile
ENST00000522905.1:c.80C>T	ENSP00000430768.1:p.Thr27Ile
NM_001172574.1:c.80C>T	NP_001166045.1:p.Thr27Ile
NM_001172575.1:c.80C>T	NP_001166046.1:p.Thr27Ile
NM_024596.3:c.80C>T	NP_078872.2:p.Thr27Ile
XM_011534755.1:c.80C>T	XP_011533057.1:p.Thr27Ile
XM_011534756.1:c.80C>T	XP_011533058.1:p.Thr27Ile
XM_011534757.1:c.80C>T	XP_011533059.1:p.Thr27Ile
XM_011534758.1:c.80C>T	XP_011533060.1:p.Thr27Ile
XM_011534759.1:c.80C>T	XP_011533061.1:p.Thr27Ile
NM_001322042.1:c.80C>T	NP_001308971.1:p.Thr27Ile
NM_001322043.1:c.74C>T	NP_001308972.1:p.Thr25Ile
NM_001322045.1:c.-23C>T	NP_001308974.1:n.-23C>T
NM_001363979.1:c.80C>T	NP_001350908.1:p.Thr27Ile
NM_001363980.1:c.80C>T	NP_001350909.1:p.Thr27Ile
NM_024596.4:c.80C>T	NP_078872.2:p.Thr27Ile
NR_136159.1:n.156C>T
XM_011534755.3:c.80C>T	XP_011533057.1:p.Thr27Ile
XM_011534756.3:c.80C>T	XP_011533058.1:p.Thr27Ile
XM_011534757.3:c.80C>T	XP_011533059.1:p.Thr27Ile
XM_011534758.3:c.80C>T	XP_011533060.1:p.Thr27Ile
XM_011534759.3:c.80C>T	XP_011533061.1:p.Thr27Ile
XM_017013829.2:c.80C>T	XP_016869318.1:p.Thr27Ile
XM_017013831.2:c.80C>T	XP_016869320.1:p.Thr27Ile
XM_017013832.2:c.80C>T	XP_016869321.1:p.Thr27Ile
XM_017013833.2:c.80C>T	XP_016869322.1:p.Thr27Ile
XR_001745596.2:n.133C>T
NM_024596.5:c.80C>T MANE Select	NP_078872.3:p.Thr27Ile
NM_001322042.2:c.80C>T	NP_001308971.2:p.Thr27Ile
NM_001363980.2:c.80C>T	NP_001350909.1:p.Thr27Ile
NM_001172574.2:c.80C>T	NP_001166045.2:p.Thr27Ile
NM_001172575.2:c.80C>T	NP_001166046.1:p.Thr27Ile
NM_001322043.2:c.74C>T	NP_001308972.2:p.Thr25Ile
NM_001322045.2:c.-23C>T	NP_001308974.2:n.-23C>T
NR_136159.2:n.121C>T