Canonical Allele Identifier: CA367153066
Gene: ADCYAP1R1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.31087637A>T , CM000669.2:g.31087637A>T GRCh38
NC_000007.13:g.31127251A>T , CM000669.1:g.31127251A>T GRCh37
NC_000007.12:g.31093776A>T NCBI36
NG_029869.1:g.40176A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396211.7:c.895A>T ENSP00000379514.2:p.Met299Leu
ENST00000705423.1:c.895A>T ENSP00000516124.1:p.Met299Leu
ENST00000705424.1:c.895A>T ENSP00000516125.1:p.Met299Leu
ENST00000304166.9:c.895A>T MANE Select ENSP00000306620.4:p.Met299Leu
ENST00000304166.8:c.895A>T ENSP00000306620.4:p.Met299Leu
ENST00000396211.6:c.895A>T ENSP00000379514.2:p.Met299Leu
ENST00000409363.5:c.832A>T ENSP00000387335.1:p.Met278Leu
ENST00000409489.5:c.895A>T ENSP00000386395.1:p.Met299Leu
ENST00000436116.1:c.44A>T
ENST00000614107.4:c.895A>T ENSP00000483721.1:p.Met299Leu
NM_001118.4:c.895A>T NP_001109.2:p.Met299Leu
NM_001199635.1:c.895A>T NP_001186564.1:p.Met299Leu
NM_001199636.1:c.895A>T NP_001186565.1:p.Met299Leu
NM_001199637.1:c.832A>T NP_001186566.1:p.Met278Leu
XM_005249618.3:c.724A>T XP_005249675.1:p.Met242Leu
XM_006715645.1:c.895A>T XP_006715708.1:p.Met299Leu
XM_011515117.1:c.895A>T XP_011513419.1:p.Met299Leu
XM_011515118.1:c.874A>T XP_011513420.1:p.Met292Leu
XM_011515119.1:c.832A>T XP_011513421.1:p.Met278Leu
XM_011515120.1:c.724A>T XP_011513422.1:p.Met242Leu
XM_005249618.5:c.724A>T XP_005249675.1:p.Met242Leu
XM_006715645.3:c.895A>T XP_006715708.1:p.Met299Leu
XM_017011736.2:c.874A>T XP_016867225.1:p.Met292Leu
XM_017011737.2:c.832A>T XP_016867226.1:p.Met278Leu
XM_017011738.2:c.724A>T XP_016867227.1:p.Met242Leu
NM_001118.5:c.895A>T MANE Select NP_001109.2:p.Met299Leu
NM_001199636.2:c.895A>T NP_001186565.1:p.Met299Leu
NM_001199637.2:c.832A>T NP_001186566.1:p.Met278Leu
NM_001199635.2:c.895A>T NP_001186564.1:p.Met299Leu