Canonical Allele Identifier: CA373441155
Community Standard Title: NM_012203.2(GRHPR):c.1A>G (p.Met1Val)
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37422751A>G , CM000671.2:g.37422751A>G GRCh38
NC_000009.11:g.37422748A>G , CM000671.1:g.37422748A>G GRCh37
NC_000009.10:g.37412748A>G NCBI36
NG_008135.1:g.5042A>G

Transcript Alleles

HGVS Amino-acid Change
NM_012203.2:c.1A>G MANE Select NP_036335.1:p.Met1Val
ENST00000318158.11:c.1A>G MANE Select ENSP00000313432.6:p.Met1Val
NM_012203.1:c.1A>G NP_036335.1:p.Met1Val
ENST00000318158.10:c.1A>G ENSP00000313432.6:p.Met1Val
ENST00000377824.8:n.38A>G
ENST00000460882.5:n.56A>G
ENST00000487399.5:n.38A>G
ENST00000491488.5:n.27A>G
ENST00000493368.5:n.86A>G
ENST00000607784.1:c.1A>G ENSP00000475569.1:p.Met1Val
XM_005251631.1:c.1A>G XP_005251688.1:p.Met1Val
XM_011518073.1:c.-762A>G XP_011516375.1:n.-762A>G
XM_017015320.2:c.1A>G XP_016870809.1:p.Met1Val
XM_017015321.2:c.1A>G XP_016870810.1:p.Met1Val
XM_017015323.2:c.-762A>G XP_016870812.1:n.-762A>G
XM_024447716.1:c.302A>G XP_024303484.1:p.Asp101Gly
XM_024447717.1:c.302A>G XP_024303485.1:p.Asp101Gly
XR_002956828.1:n.317A>G
XR_002956829.1:n.317A>G
XR_002956830.1:n.60A>G
XR_002956831.1:n.56A>G
XR_002956832.1:n.60A>G
XR_929374.1:n.86A>G