Canonical Allele Identifier: CA12827530
Gene: MCPH1 HGNC NCBI
ANGPT2 HGNC NCBI

Linked Data

dbSNP Id: rs2442607
gnomAD v2: 8-6387308-T-C
gnomAD v3: 8-6529787-T-C
gnomAD v4: 8-6529787-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6529787T>C , CM000670.2:g.6529787T>C GRCh38
NC_000008.10:g.6387308T>C , CM000670.1:g.6387308T>C GRCh37
NC_000008.9:g.6374716T>C NCBI36
NG_016619.1:g.128196T>C
NG_029483.1:g.38477A>G
NG_016619.2:g.128196T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000519221.6:n.440+29858T>C (MCPH1)
ENST00000521129.2:c.261+29858T>C (MCPH1) ENSP00000509664.1:n.261+29858T>C
ENST00000521175.2:n.937+29858T>C (MCPH1)
ENST00000687324.1:n.1152+29858T>C (MCPH1)
ENST00000687413.1:c.303+29858T>C (MCPH1) ENSP00000510583.1:n.303+29858T>C
ENST00000687720.1:c.*2162+29858T>C (MCPH1) ENSP00000510728.1:n.*2162+29858T>C
ENST00000688101.1:c.2371+29858T>C (MCPH1)
ENST00000688388.1:c.*203+29858T>C (MCPH1) ENSP00000510092.1:n.*203+29858T>C
ENST00000689148.1:n.1174+29858T>C (MCPH1)
ENST00000689348.1:c.2214+29858T>C (MCPH1) ENSP00000509554.1:n.2214+29858T>C
ENST00000689633.1:c.1935+74535T>C (MCPH1) ENSP00000509054.1:n.1935+74535T>C
ENST00000689736.1:c.858+29858T>C (MCPH1) ENSP00000509722.1:n.858+29858T>C
ENST00000690159.1:c.*2493+29858T>C (MCPH1) ENSP00000510482.1:n.*2493+29858T>C
ENST00000690708.1:c.1059+29858T>C (MCPH1) ENSP00000510400.1:n.1059+29858T>C
ENST00000690826.1:c.2214+29858T>C (MCPH1) ENSP00000510536.1:n.2214+29858T>C
ENST00000691435.1:c.2215-15675T>C (MCPH1) ENSP00000510652.1:n.2215-15675T>C
ENST00000692836.1:c.2214+29858T>C (MCPH1) ENSP00000509971.1:n.2214+29858T>C
ENST00000692938.1:c.2214+29858T>C (MCPH1) ENSP00000509072.1:n.2214+29858T>C
ENST00000693231.1:c.*1675+74535T>C (MCPH1) ENSP00000510764.1:n.*1675+74535T>C
ENST00000344683.10:c.2214+29858T>C (MCPH1) MANE Select ENSP00000342924.5:n.2214+29858T>C
ENST00000629816.3:c.445-2111A>G (ANGPT2) MANE Select ENSP00000486858.2:n.445-2111A>G
ENST00000325203.9:c.445-2111A>G (ANGPT2) ENSP00000314897.5:n.445-2111A>G
ENST00000338312.10:c.289-2111A>G (ANGPT2) ENSP00000343517.6:n.289-2111A>G
ENST00000344683.9:c.2214+29858T>C (MCPH1) ENSP00000342924.5:n.2214+29858T>C
ENST00000519221.5:n.321+29858T>C (MCPH1)
ENST00000521129.1:n.372+29858T>C (MCPH1)
ENST00000523120.2:c.445-2111A>G (ANGPT2) ENSP00000428023.1:n.445-2111A>G
ENST00000629816.2:c.445-2111A>G (ANGPT2) ENSP00000486858.1:n.445-2111A>G
NM_001118887.1:c.445-2111A>G (ANGPT2) NP_001112359.1:n.445-2111A>G
NM_001118888.1:c.289-2111A>G (ANGPT2) NP_001112360.1:n.289-2111A>G
NM_001147.2:c.445-2111A>G (ANGPT2) NP_001138.1:n.445-2111A>G
NM_024596.3:c.2214+29858T>C (MCPH1) NP_078872.2:n.2214+29858T>C
XM_011534755.1:c.2214+29858T>C (MCPH1) XP_011533057.1:n.2214+29858T>C
XM_011534756.1:c.2215-25479T>C (MCPH1) XP_011533058.1:n.2215-25479T>C
XM_011534757.1:c.2214+29858T>C (MCPH1) XP_011533059.1:n.2214+29858T>C
XM_011534759.1:c.2215-15675T>C (MCPH1) XP_011533061.1:n.2215-15675T>C
XM_011534760.1:c.1689+29858T>C (MCPH1) XP_011533062.1:n.1689+29858T>C
NM_001322042.1:c.2214+29858T>C (MCPH1) NP_001308971.1:n.2214+29858T>C
NM_001363979.1:c.2214+29858T>C (MCPH1) NP_001350908.1:n.2214+29858T>C
NM_001363980.1:c.1935+74535T>C (MCPH1) NP_001350909.1:n.1935+74535T>C
NM_024596.4:c.2214+29858T>C (MCPH1) NP_078872.2:n.2214+29858T>C
XM_011534755.3:c.2214+29858T>C (MCPH1) XP_011533057.1:n.2214+29858T>C
XM_011534756.3:c.2215-25479T>C (MCPH1) XP_011533058.1:n.2215-25479T>C
XM_011534757.3:c.2214+29858T>C (MCPH1) XP_011533059.1:n.2214+29858T>C
XM_011534759.3:c.2215-15675T>C (MCPH1) XP_011533061.1:n.2215-15675T>C
XM_011534760.2:c.1689+29858T>C (MCPH1) XP_011533062.1:n.1689+29858T>C
XM_017013318.1:c.289-2111A>G (ANGPT2) XP_016868807.1:n.289-2111A>G
XM_017013829.2:c.2214+29858T>C (MCPH1) XP_016869318.1:n.2214+29858T>C
XM_017013831.2:c.2013+29858T>C (MCPH1) XP_016869320.1:n.2013+29858T>C
XM_017013832.2:c.1935+74535T>C (MCPH1) XP_016869321.1:n.1935+74535T>C
XM_017013833.2:c.2214+29858T>C (MCPH1) XP_016869322.1:n.2214+29858T>C
XR_001745596.2:n.2267+29858T>C (MCPH1)
NM_024596.5:c.2214+29858T>C (MCPH1) MANE Select NP_078872.3:n.2214+29858T>C
NM_001118887.2:c.445-2111A>G (ANGPT2) MANE Select NP_001112359.1:n.445-2111A>G
NM_001118888.2:c.289-2111A>G (ANGPT2) NP_001112360.1:n.289-2111A>G
NM_001147.3:c.445-2111A>G (ANGPT2) NP_001138.1:n.445-2111A>G
NM_001322042.2:c.2214+29858T>C (MCPH1) NP_001308971.2:n.2214+29858T>C
NM_001363980.2:c.1935+74535T>C (MCPH1) NP_001350909.1:n.1935+74535T>C
NM_001386335.1:c.289-2111A>G (ANGPT2) NP_001373264.1:n.289-2111A>G
NM_001386336.1:c.445-2111A>G (ANGPT2) NP_001373265.1:n.445-2111A>G
NM_001386337.1:c.445-2111A>G (ANGPT2) NP_001373266.1:n.445-2111A>G