Canonical Allele Identifier: CA8708207

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs752055083
• ExAC: 17:61995195 C / T
• gnomAD v2: 17-61995195-C-T
• gnomAD v4: 17-63917835-C-T
• MyVariant Identifiers: chr17:g.61995195C>T (hg19) ; chr17:g.63917835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917835C>T , CM000679.2:g.63917835C>T	GRCh38
NC_000017.10:g.61995195C>T , CM000679.1:g.61995195C>T	GRCh37
NC_000017.9:g.59348927C>T	NCBI36
NG_011676.1:g.6004G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.381G>A (GH1) MANE Select	ENSP00000312673.5:p.Leu127=
ENST00000647774.1:c.659G>A
ENST00000323322.9:c.381G>A (GH1)	ENSP00000312673.5:p.Leu127=
ENST00000342364.8:c.172-329G>A (GH1)	ENSP00000339278.4:n.172-329G>A
ENST00000351388.8:c.261G>A (GH1)	ENSP00000343791.4:p.Leu87=
ENST00000392824.8:c.10+932G>A (CSHL1)	ENSP00000376569.5:n.10+932G>A
ENST00000458650.6:c.336G>A (GH1)	ENSP00000408486.2:p.Leu112=
ENST00000579711.1:n.742G>A (GH1)
ENST00000617086.1:c.11-329G>A (GH1)	ENSP00000481276.1:n.11-329G>A
NM_000515.4:c.381G>A (GH1)	NP_000506.2:p.Leu127=
NM_022559.3:c.336G>A (GH1)	NP_072053.1:p.Leu112=
NM_022560.3:c.261G>A (GH1)	NP_072054.1:p.Leu87=
XM_011524612.1:c.381G>A (GH1)	XP_011522914.1:p.Leu127=
XR_002958148.1:n.434C>T
NM_000515.5:c.381G>A (GH1) MANE Select	NP_000506.2:p.Leu127=
NM_022559.4:c.336G>A (GH1)	NP_072053.1:p.Leu112=
NM_022560.4:c.261G>A (GH1)	NP_072054.1:p.Leu87=