Canonical Allele Identifier: CA400612149

Gene: GH1 CSHL1

Linked Data

• MyVariant Identifiers: chr17:g.61995277T>C (hg19) ; chr17:g.63917917T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917917T>C , CM000679.2:g.63917917T>C	GRCh38
NC_000017.10:g.61995277T>C , CM000679.1:g.61995277T>C	GRCh37
NC_000017.9:g.59349009T>C	NCBI36
NG_011676.1:g.5922A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.299A>G (GH1) MANE Select	ENSP00000312673.5:p.Glu100Gly
ENST00000647774.1:c.577A>G
ENST00000323322.9:c.299A>G (GH1)	ENSP00000312673.5:p.Glu100Gly
ENST00000342364.8:c.172-411A>G (GH1)	ENSP00000339278.4:n.172-411A>G
ENST00000351388.8:c.179A>G (GH1)	ENSP00000343791.4:p.Glu60Gly
ENST00000392824.8:c.10+850A>G (CSHL1)	ENSP00000376569.5:n.10+850A>G
ENST00000458650.6:c.254A>G (GH1)	ENSP00000408486.2:p.Glu85Gly
ENST00000579711.1:n.660A>G (GH1)
ENST00000617086.1:c.11-411A>G (GH1)	ENSP00000481276.1:n.11-411A>G
NM_000515.4:c.299A>G (GH1)	NP_000506.2:p.Glu100Gly
NM_022559.3:c.254A>G (GH1)	NP_072053.1:p.Glu85Gly
NM_022560.3:c.179A>G (GH1)	NP_072054.1:p.Glu60Gly
XM_011524612.1:c.299A>G (GH1)	XP_011522914.1:p.Glu100Gly
NM_000515.5:c.299A>G (GH1) MANE Select	NP_000506.2:p.Glu100Gly
NM_022559.4:c.254A>G (GH1)	NP_072053.1:p.Glu85Gly
NM_022560.4:c.179A>G (GH1)	NP_072054.1:p.Glu60Gly