Canonical Allele Identifier: CA400611558

Gene: GH1 CSHL1

Linked Data

• MyVariant Identifiers: chr17:g.61995148A>C (hg19) ; chr17:g.63917788A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917788A>C , CM000679.2:g.63917788A>C	GRCh38
NC_000017.10:g.61995148A>C , CM000679.1:g.61995148A>C	GRCh37
NC_000017.9:g.59348880A>C	NCBI36
NG_011676.1:g.6051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.428T>G (GH1) MANE Select	ENSP00000312673.5:p.Leu143Arg
ENST00000647774.1:c.706T>G
ENST00000323322.9:c.428T>G (GH1)	ENSP00000312673.5:p.Leu143Arg
ENST00000342364.8:c.172-282T>G (GH1)	ENSP00000339278.4:n.172-282T>G
ENST00000351388.8:c.308T>G (GH1)	ENSP00000343791.4:p.Leu103Arg
ENST00000392824.8:c.10+979T>G (CSHL1)	ENSP00000376569.5:n.10+979T>G
ENST00000458650.6:c.383T>G (GH1)	ENSP00000408486.2:p.Leu128Arg
ENST00000579711.1:n.789T>G (GH1)
ENST00000617086.1:c.11-282T>G (GH1)	ENSP00000481276.1:n.11-282T>G
NM_000515.4:c.428T>G (GH1)	NP_000506.2:p.Leu143Arg
NM_022559.3:c.383T>G (GH1)	NP_072053.1:p.Leu128Arg
NM_022560.3:c.308T>G (GH1)	NP_072054.1:p.Leu103Arg
XM_011524612.1:c.428T>G (GH1)	XP_011522914.1:p.Leu143Arg
XR_002958148.1:n.389-2A>C
NM_000515.5:c.428T>G (GH1) MANE Select	NP_000506.2:p.Leu143Arg
NM_022559.4:c.383T>G (GH1)	NP_072053.1:p.Leu128Arg
NM_022560.4:c.308T>G (GH1)	NP_072054.1:p.Leu103Arg