Canonical Allele Identifier: CA400611717

Gene: GH1 CSHL1

Linked Data

• gnomAD v4: 17-63917822-A-G
• MyVariant Identifiers: chr17:g.61995182A>G (hg19) ; chr17:g.63917822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917822A>G , CM000679.2:g.63917822A>G	GRCh38
NC_000017.10:g.61995182A>G , CM000679.1:g.61995182A>G	GRCh37
NC_000017.9:g.59348914A>G	NCBI36
NG_011676.1:g.6017T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.394T>C (GH1) MANE Select	ENSP00000312673.5:p.Ser132Pro
ENST00000647774.1:c.672T>C
ENST00000323322.9:c.394T>C (GH1)	ENSP00000312673.5:p.Ser132Pro
ENST00000342364.8:c.172-316T>C (GH1)	ENSP00000339278.4:n.172-316T>C
ENST00000351388.8:c.274T>C (GH1)	ENSP00000343791.4:p.Ser92Pro
ENST00000392824.8:c.10+945T>C (CSHL1)	ENSP00000376569.5:n.10+945T>C
ENST00000458650.6:c.349T>C (GH1)	ENSP00000408486.2:p.Ser117Pro
ENST00000579711.1:n.755T>C (GH1)
ENST00000617086.1:c.11-316T>C (GH1)	ENSP00000481276.1:n.11-316T>C
NM_000515.4:c.394T>C (GH1)	NP_000506.2:p.Ser132Pro
NM_022559.3:c.349T>C (GH1)	NP_072053.1:p.Ser117Pro
NM_022560.3:c.274T>C (GH1)	NP_072054.1:p.Ser92Pro
XM_011524612.1:c.394T>C (GH1)	XP_011522914.1:p.Ser132Pro
XR_002958148.1:n.421A>G
NM_000515.5:c.394T>C (GH1) MANE Select	NP_000506.2:p.Ser132Pro
NM_022559.4:c.349T>C (GH1)	NP_072053.1:p.Ser117Pro
NM_022560.4:c.274T>C (GH1)	NP_072054.1:p.Ser92Pro