Canonical Allele Identifier: CA213429

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 15971
• ClinVar RCV Id: RCV000017341
• dbSNP Id: rs71640277
• MyVariant Identifiers: chr17:g.61995376C>G (hg19) ; chr17:g.63918016C>G (hg38)
• PubMed: PMID:7714096 ; PMID:8530604 ; PMID:8923859 ; PMID:9578959 ; PMID:18785993

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63918016C>G , CM000679.2:g.63918016C>G	GRCh38
NC_000017.10:g.61995376C>G , CM000679.1:g.61995376C>G	GRCh37
NC_000017.9:g.59349108C>G	NCBI36
NG_011676.1:g.5823G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+1G>C (GH1) MANE Select	ENSP00000312673.5:n.291+1G>C
ENST00000647774.1:c.569+1G>C
ENST00000323322.9:c.291+1G>C (GH1)	ENSP00000312673.5:n.291+1G>C
ENST00000342364.8:c.171+330G>C (GH1)	ENSP00000339278.4:n.171+330G>C
ENST00000351388.8:c.172-92G>C (GH1)	ENSP00000343791.4:n.172-92G>C
ENST00000392824.8:c.10+751G>C (CSHL1)	ENSP00000376569.5:n.10+751G>C
ENST00000458650.6:c.246+1G>C (GH1)	ENSP00000408486.2:n.246+1G>C
ENST00000579711.1:n.652+1G>C (GH1)
ENST00000617086.1:c.11-510G>C (GH1)	ENSP00000481276.1:n.11-510G>C
NM_000515.4:c.291+1G>C (GH1)	NP_000506.2:n.291+1G>C
NM_022559.3:c.246+1G>C (GH1)	NP_072053.1:n.246+1G>C
NM_022560.3:c.172-92G>C (GH1)	NP_072054.1:n.172-92G>C
XM_011524612.1:c.291+1G>C (GH1)	XP_011522914.1:n.291+1G>C
NM_000515.5:c.291+1G>C (GH1) MANE Select	NP_000506.2:n.291+1G>C
NM_022559.4:c.246+1G>C (GH1)	NP_072053.1:n.246+1G>C
NM_022560.4:c.172-92G>C (GH1)	NP_072054.1:n.172-92G>C