Canonical Allele Identifier: CA400611659

Gene: GH1 CSHL1

Linked Data

• gnomAD v4: 17-63917810-C-G
• MyVariant Identifiers: chr17:g.61995170C>G (hg19) ; chr17:g.63917810C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917810C>G , CM000679.2:g.63917810C>G	GRCh38
NC_000017.10:g.61995170C>G , CM000679.1:g.61995170C>G	GRCh37
NC_000017.9:g.59348902C>G	NCBI36
NG_011676.1:g.6029G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.406G>C (GH1) MANE Select	ENSP00000312673.5:p.Val136Leu
ENST00000647774.1:c.684G>C
ENST00000323322.9:c.406G>C (GH1)	ENSP00000312673.5:p.Val136Leu
ENST00000342364.8:c.172-304G>C (GH1)	ENSP00000339278.4:n.172-304G>C
ENST00000351388.8:c.286G>C (GH1)	ENSP00000343791.4:p.Val96Leu
ENST00000392824.8:c.10+957G>C (CSHL1)	ENSP00000376569.5:n.10+957G>C
ENST00000458650.6:c.361G>C (GH1)	ENSP00000408486.2:p.Val121Leu
ENST00000579711.1:n.767G>C (GH1)
ENST00000617086.1:c.11-304G>C (GH1)	ENSP00000481276.1:n.11-304G>C
NM_000515.4:c.406G>C (GH1)	NP_000506.2:p.Val136Leu
NM_022559.3:c.361G>C (GH1)	NP_072053.1:p.Val121Leu
NM_022560.3:c.286G>C (GH1)	NP_072054.1:p.Val96Leu
XM_011524612.1:c.406G>C (GH1)	XP_011522914.1:p.Val136Leu
XR_002958148.1:n.409C>G
NM_000515.5:c.406G>C (GH1) MANE Select	NP_000506.2:p.Val136Leu
NM_022559.4:c.361G>C (GH1)	NP_072053.1:p.Val121Leu
NM_022560.4:c.286G>C (GH1)	NP_072054.1:p.Val96Leu