Canonical Allele Identifier: CA153056
Gene: GRM1 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.146434188T>C , CM000668.2:g.146434188T>C GRCh38
NC_000006.11:g.146755324T>C , CM000668.1:g.146755324T>C GRCh37
NC_000006.10:g.146797017T>C NCBI36
NG_012839.1:g.411543T>C
NG_012839.2:g.411543T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706833.1:c.2977T>C ENSP00000516579.1:p.Ser993Pro
ENST00000706834.1:c.*306T>C ENSP00000516580.1:n.*306T>C
ENST00000706835.1:c.2977T>C ENSP00000516581.1:p.Ser993Pro
ENST00000706836.1:c.*341T>C ENSP00000516582.1:n.*341T>C
ENST00000282753.6:c.2977T>C MANE Select ENSP00000282753.1:p.Ser993Pro
ENST00000282753.5:c.2977T>C ENSP00000282753.1:p.Ser993Pro
ENST00000355289.8:c.*215T>C ENSP00000347437.4:n.*215T>C
ENST00000361719.6:c.2977T>C ENSP00000354896.2:p.Ser993Pro
ENST00000492807.6:c.*341T>C ENSP00000424095.1:n.*341T>C
ENST00000507907.1:c.*306T>C ENSP00000425599.1:n.*306T>C
NM_001278064.1:c.2977T>C NP_001264993.1:p.Ser993Pro
NM_001278065.1:c.*341T>C NP_001264994.1:n.*341T>C
NM_001278066.1:c.*306T>C NP_001264995.1:n.*306T>C
NM_001278067.1:c.*215T>C NP_001264996.1:n.*215T>C
XM_011535782.1:c.2977T>C XP_011534084.1:p.Ser993Pro
XM_011535783.1:c.2977T>C XP_011534085.1:p.Ser993Pro
XM_011535784.1:c.2977T>C XP_011534086.1:p.Ser993Pro
XM_017010783.1:c.2977T>C XP_016866272.1:p.Ser993Pro
XM_017010784.1:c.2977T>C XP_016866273.1:p.Ser993Pro
XM_017010785.1:c.*341T>C XP_016866274.1:n.*341T>C
XM_017010786.1:c.*306T>C XP_016866275.1:n.*306T>C
XM_017010787.1:c.*306T>C XP_016866276.1:n.*306T>C
XM_017010788.1:c.1750T>C XP_016866277.1:p.Ser584Pro
XM_024446412.1:c.*341T>C XP_024302180.1:n.*341T>C
NM_001278064.2:c.2977T>C MANE Select NP_001264993.1:p.Ser993Pro
NM_001278065.2:c.*341T>C NP_001264994.1:n.*341T>C