Canonical Allele Identifier: CA401748051
Community Standard Title: NM_001142966.3(GREB1L):c.3170G>C (p.Arg1057Pro)
Gene: GREB1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21496477G>C , CM000680.2:g.21496477G>C GRCh38
NC_000018.9:g.19076438G>C , CM000680.1:g.19076438G>C GRCh37
NC_000018.8:g.17330436G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001142966.3:c.3170G>C MANE Select NP_001136438.1:p.Arg1057Pro
ENST00000424526.7:c.3170G>C MANE Select ENSP00000412060.1:p.Arg1057Pro
NM_001142966.1:c.3170G>C NP_001136438.1:p.Arg1057Pro
NM_001142966.2:c.3170G>C NP_001136438.1:p.Arg1057Pro
ENST00000269218.10:c.2843G>C ENSP00000269218.6:p.Arg948Pro
ENST00000424526.5:c.3170G>C ENSP00000412060.1:p.Arg1057Pro
ENST00000424526.6:c.3170G>C ENSP00000412060.1:p.Arg1057Pro
ENST00000578955.1:n.1193G>C
ENST00000579454.2:c.3299G>C ENSP00000463926.2:p.Arg1100Pro
ENST00000580732.6:c.3170G>C ENSP00000464162.1:p.Arg1057Pro
XM_006722547.1:c.3299G>C XP_006722610.1:p.Arg1100Pro
XM_006722547.3:c.3299G>C XP_006722610.1:p.Arg1100Pro
XM_011526176.1:c.3299G>C XP_011524478.1:p.Arg1100Pro
XM_011526177.1:c.3299G>C XP_011524479.1:p.Arg1100Pro
XM_011526178.1:c.3170G>C XP_011524480.1:p.Arg1057Pro
XM_011526179.1:c.3299G>C XP_011524481.1:p.Arg1100Pro
XM_011526179.3:c.3299G>C XP_011524481.1:p.Arg1100Pro
XM_011526180.1:c.2972G>C XP_011524482.1:p.Arg991Pro
XM_011526181.1:c.2843G>C XP_011524483.1:p.Arg948Pro
XM_011526182.1:c.461G>C XP_011524484.1:p.Arg154Pro
XM_017025988.1:c.3299G>C XP_016881477.1:p.Arg1100Pro
XM_017025989.1:c.3299G>C XP_016881478.1:p.Arg1100Pro
XM_017025990.1:c.3299G>C XP_016881479.1:p.Arg1100Pro
XM_017025991.1:c.3215G>C XP_016881480.1:p.Arg1072Pro
XM_017025992.1:c.3170G>C XP_016881481.1:p.Arg1057Pro
XM_017025993.1:c.3170G>C XP_016881482.1:p.Arg1057Pro
XM_017025994.1:c.2972G>C XP_016881483.1:p.Arg991Pro
XM_017025995.1:c.2888G>C XP_016881484.1:p.Arg963Pro
XM_017025996.1:c.2843G>C XP_016881485.1:p.Arg948Pro