Canonical Allele Identifier: CA400611450

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 1679136
• ClinVar RCV Id: RCV002226579
• dbSNP Id: rs1180054712
• gnomAD v2: 17-61995124-A-G
• gnomAD v4: 17-63917764-A-G
• MyVariant Identifiers: chr17:g.61995124A>G (hg19) ; chr17:g.63917764A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917764A>G , CM000679.2:g.63917764A>G	GRCh38
NC_000017.10:g.61995124A>G , CM000679.1:g.61995124A>G	GRCh37
NC_000017.9:g.59348856A>G	NCBI36
NG_011676.1:g.6075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.452T>C (GH1) MANE Select	ENSP00000312673.5:p.Met151Thr
ENST00000647774.1:c.730T>C
ENST00000323322.9:c.452T>C (GH1)	ENSP00000312673.5:p.Met151Thr
ENST00000342364.8:c.172-258T>C (GH1)	ENSP00000339278.4:n.172-258T>C
ENST00000351388.8:c.332T>C (GH1)	ENSP00000343791.4:p.Met111Thr
ENST00000392824.8:c.10+1003T>C (CSHL1)	ENSP00000376569.5:n.10+1003T>C
ENST00000458650.6:c.407T>C (GH1)	ENSP00000408486.2:p.Met136Thr
ENST00000579711.1:n.813T>C (GH1)
ENST00000617086.1:c.11-258T>C (GH1)	ENSP00000481276.1:n.11-258T>C
NM_000515.4:c.452T>C (GH1)	NP_000506.2:p.Met151Thr
NM_022559.3:c.407T>C (GH1)	NP_072053.1:p.Met136Thr
NM_022560.3:c.332T>C (GH1)	NP_072054.1:p.Met111Thr
XM_011524612.1:c.452T>C (GH1)	XP_011522914.1:p.Met151Thr
XR_002958148.1:n.389-26A>G
NM_000515.5:c.452T>C (GH1) MANE Select	NP_000506.2:p.Met151Thr
NM_022559.4:c.407T>C (GH1)	NP_072053.1:p.Met136Thr
NM_022560.4:c.332T>C (GH1)	NP_072054.1:p.Met111Thr