Canonical Allele Identifier: CA7734417

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90241048C>T , CM000677.2:g.90241048C>T GRCh38
NC_000015.9:g.90784280C>T , CM000677.1:g.90784280C>T GRCh37
NC_000015.8:g.88585284C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329600.8:c.140C>T (GDPGP1) MANE Select ENSP00000368405.3:p.Ala47Val
ENST00000558291.2:c.140C>T (GDPGP1) ENSP00000454128.2:p.Ala47Val
ENST00000559204.6:c.140C>T (GDPGP1) ENSP00000453822.2:p.Ala47Val
ENST00000641199.1:c.140C>T ENSP00000492952.1:p.Ala47Val
ENST00000641334.1:n.198+2500C>T
ENST00000329600.7:c.140C>T (GDPGP1) ENSP00000368405.3:p.Ala47Val
ENST00000558017.5:c.140C>T (GDPGP1) ENSP00000452793.1:p.Ala47Val
ENST00000559204.5:c.140C>T (GDPGP1) ENSP00000453822.1:p.Ala47Val
ENST00000561433.5:c.140C>T (GDPGP1) ENSP00000453037.1:p.Ala47Val
NM_001013657.2:c.140C>T (GDPGP1) NP_001013679.2:p.Ala47Val
NR_102428.1:n.104-7345G>A (CIB1)
XM_011521550.1:c.140C>T (GDPGP1) XP_011519852.1:p.Ala47Val
NM_001322811.1:c.140C>T (GDPGP1) NP_001309740.1:p.Ala47Val
NM_001013657.3:c.140C>T (GDPGP1) MANE Select NP_001013679.2:p.Ala47Val
NM_001322811.2:c.140C>T (GDPGP1) NP_001309740.1:p.Ala47Val