Canonical Allele Identifier: CA401741286
Community Standard Title: NM_001142966.3(GREB1L):c.2441T>C (p.Leu814Pro)
Gene: GREB1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21477241T>C , CM000680.2:g.21477241T>C GRCh38
NC_000018.9:g.19057202T>C , CM000680.1:g.19057202T>C GRCh37
NC_000018.8:g.17311200T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001142966.3:c.2441T>C MANE Select NP_001136438.1:p.Leu814Pro
ENST00000424526.7:c.2441T>C MANE Select ENSP00000412060.1:p.Leu814Pro
NM_001142966.1:c.2441T>C NP_001136438.1:p.Leu814Pro
NM_001142966.2:c.2441T>C NP_001136438.1:p.Leu814Pro
ENST00000269218.10:c.2114T>C ENSP00000269218.6:p.Leu705Pro
ENST00000424526.5:c.2441T>C ENSP00000412060.1:p.Leu814Pro
ENST00000424526.6:c.2441T>C ENSP00000412060.1:p.Leu814Pro
ENST00000578955.1:n.464T>C
ENST00000579454.2:c.2570T>C ENSP00000463926.2:p.Leu857Pro
ENST00000580732.6:c.2441T>C ENSP00000464162.1:p.Leu814Pro
XM_006722547.1:c.2570T>C XP_006722610.1:p.Leu857Pro
XM_006722547.3:c.2570T>C XP_006722610.1:p.Leu857Pro
XM_011526176.1:c.2570T>C XP_011524478.1:p.Leu857Pro
XM_011526177.1:c.2570T>C XP_011524479.1:p.Leu857Pro
XM_011526178.1:c.2441T>C XP_011524480.1:p.Leu814Pro
XM_011526179.1:c.2570T>C XP_011524481.1:p.Leu857Pro
XM_011526179.3:c.2570T>C XP_011524481.1:p.Leu857Pro
XM_011526180.1:c.2243T>C XP_011524482.1:p.Leu748Pro
XM_011526181.1:c.2114T>C XP_011524483.1:p.Leu705Pro
XM_017025988.1:c.2570T>C XP_016881477.1:p.Leu857Pro
XM_017025989.1:c.2570T>C XP_016881478.1:p.Leu857Pro
XM_017025990.1:c.2570T>C XP_016881479.1:p.Leu857Pro
XM_017025991.1:c.2486T>C XP_016881480.1:p.Leu829Pro
XM_017025992.1:c.2441T>C XP_016881481.1:p.Leu814Pro
XM_017025993.1:c.2441T>C XP_016881482.1:p.Leu814Pro
XM_017025994.1:c.2243T>C XP_016881483.1:p.Leu748Pro
XM_017025995.1:c.2159T>C XP_016881484.1:p.Leu720Pro
XM_017025996.1:c.2114T>C XP_016881485.1:p.Leu705Pro