Canonical Allele Identifier: CA151888350
Community Standard Title: NM_016098.4(MPC1):c.71+68C>T
Gene: MPC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166382738G>A , CM000668.2:g.166382738G>A GRCh38
NC_000006.11:g.166796226G>A , CM000668.1:g.166796226G>A GRCh37
NC_000006.10:g.166716216G>A NCBI36
NG_032888.1:g.5276C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016098.4:c.71+68C>T MANE Select NP_057182.1:n.71+68C>T
ENST00000360961.11:c.71+68C>T MANE Select ENSP00000354223.6:n.71+68C>T
NM_001270879.1:c.-275+68C>T NP_001257808.1:n.-275+68C>T
NM_001270879.2:c.-275+68C>T NP_001257808.1:n.-275+68C>T
NM_001376565.1:c.-462+68C>T NP_001363494.1:n.-462+68C>T
NM_001376566.1:c.-55+68C>T NP_001363495.1:n.-55+68C>T
NM_001376567.1:c.-271+68C>T NP_001363496.1:n.-271+68C>T
NM_001376568.1:c.-246+68C>T NP_001363497.1:n.-246+68C>T
NM_001376569.1:c.71+68C>T NP_001363498.1:n.71+68C>T
NM_016098.3:c.71+68C>T NP_057182.1:n.71+68C>T
NR_073093.1:n.208+68C>T
NR_073093.2:n.135+68C>T
NR_164828.1:n.135+68C>T
NR_164829.1:n.135+68C>T
NR_164830.1:n.135+68C>T
NR_164831.1:n.135+68C>T
ENST00000341756.10:c.-58+68C>T ENSP00000340784.7:n.-58+68C>T
ENST00000360961.10:c.71+68C>T ENSP00000354223.6:n.71+68C>T
ENST00000475708.1:n.66+68C>T
ENST00000487218.5:n.88+68C>T
ENST00000621630.1:c.71+68C>T ENSP00000479789.1:n.71+68C>T
ENST00000621685.4:c.-274+68C>T ENSP00000477853.1:n.-274+68C>T