Canonical Allele Identifier: CA202715

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 197151
• ClinVar RCV Id: RCV000178109 ; RCV000421927 ; RCV001128609
• dbSNP Id: rs5388
• ExAC: 17:61995170 C / T
• gnomAD v2: 17-61995170-C-T
• gnomAD v3: 17-63917810-C-T
• gnomAD v4: 17-63917810-C-T
• MyVariant Identifiers: chr17:g.61995170C>T (hg19) ; chr17:g.63917810C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.406G>A (GH1) MANE Select	ENSP00000312673.5:p.Val136Ile
ENST00000647774.1:c.684G>A
ENST00000323322.9:c.406G>A (GH1)	ENSP00000312673.5:p.Val136Ile
ENST00000342364.8:c.172-304G>A (GH1)	ENSP00000339278.4:n.172-304G>A
ENST00000351388.8:c.286G>A (GH1)	ENSP00000343791.4:p.Val96Ile
ENST00000392824.8:c.10+957G>A (CSHL1)	ENSP00000376569.5:n.10+957G>A
ENST00000458650.6:c.361G>A (GH1)	ENSP00000408486.2:p.Val121Ile
ENST00000579711.1:n.767G>A (GH1)
ENST00000617086.1:c.11-304G>A (GH1)	ENSP00000481276.1:n.11-304G>A
NM_000515.4:c.406G>A (GH1)	NP_000506.2:p.Val136Ile
NM_022559.3:c.361G>A (GH1)	NP_072053.1:p.Val121Ile
NM_022560.3:c.286G>A (GH1)	NP_072054.1:p.Val96Ile
XM_011524612.1:c.406G>A (GH1)	XP_011522914.1:p.Val136Ile
XR_002958148.1:n.409C>T
NM_000515.5:c.406G>A (GH1) MANE Select	NP_000506.2:p.Val136Ile
NM_022559.4:c.361G>A (GH1)	NP_072053.1:p.Val121Ile
NM_022560.4:c.286G>A (GH1)	NP_072054.1:p.Val96Ile