Canonical Allele Identifier: CA4093659
Community Standard Title: NM_016098.4(MPC1):c.76-2A>G
Gene: MPC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166366893T>C , CM000668.2:g.166366893T>C GRCh38
NC_000006.11:g.166780381T>C , CM000668.1:g.166780381T>C GRCh37
NC_000006.10:g.166700371T>C NCBI36
NG_032888.1:g.21121A>G

Transcript Alleles

HGVS Amino-acid Change
NM_016098.4:c.76-2A>G MANE Select NP_057182.1:n.76-2A>G
ENST00000360961.11:c.76-2A>G MANE Select ENSP00000354223.6:n.76-2A>G
NM_001270879.1:c.-54-2A>G NP_001257808.1:n.-54-2A>G
NM_001270879.2:c.-54-2A>G NP_001257808.1:n.-54-2A>G
NM_001376565.1:c.-54-2A>G NP_001363494.1:n.-54-2A>G
NM_001376566.1:c.-54-2A>G NP_001363495.1:n.-54-2A>G
NM_001376567.1:c.-54-2A>G NP_001363496.1:n.-54-2A>G
NM_001376568.1:c.-54-2A>G NP_001363497.1:n.-54-2A>G
NM_001376569.1:c.76-2A>G NP_001363498.1:n.76-2A>G
NM_016098.3:c.76-2A>G NP_057182.1:n.76-2A>G
NR_073093.1:n.442-2A>G
NR_073093.2:n.369-2A>G
NR_164828.1:n.136-2A>G
NR_164829.1:n.136-2A>G
NR_164830.1:n.136-2A>G
NR_164831.1:n.136-18A>G
ENST00000341756.10:c.-56A>G ENSP00000340784.7:n.-56A>G
ENST00000360961.10:c.76-2A>G ENSP00000354223.6:n.76-2A>G
ENST00000366868.5:n.119-2A>G
ENST00000475708.1:n.300-2A>G
ENST00000487218.5:n.309-2A>G
ENST00000621630.1:c.76-2A>G ENSP00000479789.1:n.76-2A>G
ENST00000621685.4:c.-54-2A>G ENSP00000477853.1:n.-54-2A>G
XM_006715499.1:c.-54-2A>G XP_006715562.1:n.-54-2A>G
XM_011535894.1:c.-54-2A>G XP_011534196.1:n.-54-2A>G
XM_011535895.1:c.-54-2A>G XP_011534197.1:n.-54-2A>G
XM_011535895.2:c.-54-2A>G XP_011534197.1:n.-54-2A>G
XM_024446456.1:c.-54-2A>G XP_024302224.1:n.-54-2A>G