Canonical Allele Identifier: CA397316404

Linked Data

dbSNP Id: rs755234544
gnomAD v2: 17-4836324-T-G
gnomAD v4: 17-4933029-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933029T>G , CM000679.2:g.4933029T>G GRCh38
NC_000017.10:g.4836324T>G , CM000679.1:g.4836324T>G GRCh37
NC_000017.9:g.4777104T>G NCBI36
NG_008767.2:g.5735T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.425T>G (GP1BA) MANE Select ENSP00000329380.5:p.Leu142Arg
ENST00000649830.1:c.-888+1313A>C (CHRNE) ENSP00000496907.1:n.-888+1313A>C
ENST00000329125.5:c.425T>G (GP1BA) ENSP00000329380.5:p.Leu142Arg
ENST00000611961.1:c.425T>G (GP1BA) ENSP00000484439.1:p.Leu142Arg
NM_000173.6:c.425T>G (GP1BA) NP_000164.5:p.Leu142Arg
NM_000173.7:c.425T>G (GP1BA) MANE Select NP_000164.5:p.Leu142Arg