Canonical Allele Identifier: CA823936381
Gene: AGPAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1290217002
gnomAD v3: 6-32177521-T-G
gnomAD v4: 6-32177521-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32177521T>G , CM000668.2:g.32177521T>G GRCh38
NC_000006.11:g.32145298T>G , CM000668.1:g.32145298T>G GRCh37
NC_000006.10:g.32253276T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336984.6:c.-10+480A>C ENSP00000337463.6:n.-10+480A>C
ENST00000395497.5:c.-10+23A>C ENSP00000378875.1:n.-10+23A>C
NM_032741.4:c.-10+480A>C NP_116130.2:n.-10+480A>C
XM_011514234.1:c.-10+23A>C XP_011512536.1:n.-10+23A>C
XM_005248806.2:c.-297A>C XP_005248863.1:n.-297A>C
NM_032741.5:c.-10+480A>C NP_116130.2:n.-10+480A>C