Canonical Allele Identifier: CA401733926
Community Standard Title: NM_001142966.3(GREB1L):c.1729C>T (p.Gln577Ter)
Gene: GREB1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21451031C>T , CM000680.2:g.21451031C>T GRCh38
NC_000018.9:g.19030992C>T , CM000680.1:g.19030992C>T GRCh37
NC_000018.8:g.17284990C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001142966.3:c.1729C>T MANE Select NP_001136438.1:p.Gln577Ter
ENST00000424526.7:c.1729C>T MANE Select ENSP00000412060.1:p.Gln577Ter
NM_001142966.1:c.1729C>T NP_001136438.1:p.Gln577Ter
NM_001142966.2:c.1729C>T NP_001136438.1:p.Gln577Ter
ENST00000269218.10:c.1402C>T ENSP00000269218.6:p.Gln468Ter
ENST00000424526.5:c.1729C>T ENSP00000412060.1:p.Gln577Ter
ENST00000424526.6:c.1729C>T ENSP00000412060.1:p.Gln577Ter
ENST00000578368.5:n.1834C>T
ENST00000579454.2:c.1858C>T ENSP00000463926.2:p.Gln620Ter
ENST00000580683.1:n.105C>T
ENST00000580732.6:c.1729C>T ENSP00000464162.1:p.Gln577Ter
ENST00000581327.1:c.211C>T ENSP00000463976.1:p.Gln71Ter
ENST00000584446.5:n.2000C>T
XM_006722547.1:c.1858C>T XP_006722610.1:p.Gln620Ter
XM_006722547.3:c.1858C>T XP_006722610.1:p.Gln620Ter
XM_011526176.1:c.1858C>T XP_011524478.1:p.Gln620Ter
XM_011526177.1:c.1858C>T XP_011524479.1:p.Gln620Ter
XM_011526178.1:c.1729C>T XP_011524480.1:p.Gln577Ter
XM_011526179.1:c.1858C>T XP_011524481.1:p.Gln620Ter
XM_011526179.3:c.1858C>T XP_011524481.1:p.Gln620Ter
XM_011526180.1:c.1531C>T XP_011524482.1:p.Gln511Ter
XM_011526181.1:c.1402C>T XP_011524483.1:p.Gln468Ter
XM_017025988.1:c.1858C>T XP_016881477.1:p.Gln620Ter
XM_017025989.1:c.1858C>T XP_016881478.1:p.Gln620Ter
XM_017025990.1:c.1858C>T XP_016881479.1:p.Gln620Ter
XM_017025991.1:c.1858C>T XP_016881480.1:p.Gln620Ter
XM_017025992.1:c.1729C>T XP_016881481.1:p.Gln577Ter
XM_017025993.1:c.1729C>T XP_016881482.1:p.Gln577Ter
XM_017025994.1:c.1531C>T XP_016881483.1:p.Gln511Ter
XM_017025995.1:c.1531C>T XP_016881484.1:p.Gln511Ter
XM_017025996.1:c.1402C>T XP_016881485.1:p.Gln468Ter
XR_935269.1:n.24G>A
XR_935270.1:n.24G>A
XR_935271.1:n.24G>A
XR_935272.1:n.24G>A