Canonical Allele Identifier: CA375046414

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541150-T-C
• MyVariant Identifiers: chr9:g.131303429T>C (hg19) ; chr9:g.128541150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541150T>C , CM000671.2:g.128541150T>C	GRCh38
NC_000009.11:g.131303429T>C , CM000671.1:g.131303429T>C	GRCh37
NC_000009.10:g.130343250T>C	NCBI36
NG_012073.1:g.41459T>C , LRG_484:g.41459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1148T>C	ENSP00000507095.1:n.*1148T>C
ENST00000683288.1:c.*2076T>C	ENSP00000507477.1:n.*2076T>C
ENST00000683748.1:c.2104T>C	ENSP00000507377.1:p.Ser702Pro
ENST00000683905.1:c.*753T>C	ENSP00000506960.1:n.*753T>C
ENST00000684139.1:c.1612T>C	ENSP00000507295.1:p.Ser538Pro
ENST00000684210.1:n.1790T>C
ENST00000684314.1:c.1972T>C	ENSP00000507700.1:p.Ser658Pro
ENST00000684331.1:c.*797T>C	ENSP00000507431.1:n.*797T>C
ENST00000684463.1:n.715T>C
ENST00000684646.1:c.1864T>C	ENSP00000507723.1:p.Ser622Pro
ENST00000309971.9:c.2077T>C MANE Select	ENSP00000308622.5:p.Ser693Pro
ENST00000309971.8:c.2077T>C	ENSP00000308622.4:p.Ser693Pro
NM_001003722.1:c.2077T>C , LRG_484t1:c.2077T>C	NP_001003722.1:p.Ser693Pro
XM_006717059.2:c.2113T>C	XP_006717122.1:p.Ser705Pro
XM_006717060.2:c.2086T>C	XP_006717123.1:p.Ser696Pro
XM_011518549.1:c.2113T>C	XP_011516851.1:p.Ser705Pro
XM_011518550.1:c.2113T>C	XP_011516852.1:p.Ser705Pro
XM_011518551.1:c.2104T>C	XP_011516853.1:p.Ser702Pro
XM_011518552.1:c.1354T>C	XP_011516854.1:p.Ser452Pro
XR_242681.3:n.100+2229A>G
XM_006717059.3:c.2113T>C	XP_006717122.1:p.Ser705Pro
XM_006717060.3:c.2086T>C	XP_006717123.1:p.Ser696Pro
XM_011518551.2:c.2104T>C	XP_011516853.1:p.Ser702Pro
XM_024447519.1:c.2086T>C	XP_024303287.1:p.Ser696Pro
NM_001003722.2:c.2077T>C MANE Select	NP_001003722.1:p.Ser693Pro