Canonical Allele Identifier: CA400611982

Gene: GH1 CSHL1

Linked Data

• MyVariant Identifiers: chr17:g.61995239G>T (hg19) ; chr17:g.63917879G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917879G>T , CM000679.2:g.63917879G>T	GRCh38
NC_000017.10:g.61995239G>T , CM000679.1:g.61995239G>T	GRCh37
NC_000017.9:g.59348971G>T	NCBI36
NG_011676.1:g.5960C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.337C>A (GH1) MANE Select	ENSP00000312673.5:p.Leu113Met
ENST00000647774.1:c.615C>A
ENST00000323322.9:c.337C>A (GH1)	ENSP00000312673.5:p.Leu113Met
ENST00000342364.8:c.172-373C>A (GH1)	ENSP00000339278.4:n.172-373C>A
ENST00000351388.8:c.217C>A (GH1)	ENSP00000343791.4:p.Leu73Met
ENST00000392824.8:c.10+888C>A (CSHL1)	ENSP00000376569.5:n.10+888C>A
ENST00000458650.6:c.292C>A (GH1)	ENSP00000408486.2:p.Leu98Met
ENST00000579711.1:n.698C>A (GH1)
ENST00000617086.1:c.11-373C>A (GH1)	ENSP00000481276.1:n.11-373C>A
NM_000515.4:c.337C>A (GH1)	NP_000506.2:p.Leu113Met
NM_022559.3:c.292C>A (GH1)	NP_072053.1:p.Leu98Met
NM_022560.3:c.217C>A (GH1)	NP_072054.1:p.Leu73Met
XM_011524612.1:c.337C>A (GH1)	XP_011522914.1:p.Leu113Met
NM_000515.5:c.337C>A (GH1) MANE Select	NP_000506.2:p.Leu113Met
NM_022559.4:c.292C>A (GH1)	NP_072053.1:p.Leu98Met
NM_022560.4:c.217C>A (GH1)	NP_072054.1:p.Leu73Met