Canonical Allele Identifier: CA400611467

Gene: GH1 CSHL1

Linked Data

• MyVariant Identifiers: chr17:g.61995128G>C (hg19) ; chr17:g.63917768G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917768G>C , CM000679.2:g.63917768G>C	GRCh38
NC_000017.10:g.61995128G>C , CM000679.1:g.61995128G>C	GRCh37
NC_000017.9:g.59348860G>C	NCBI36
NG_011676.1:g.6071C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.448C>G (GH1) MANE Select	ENSP00000312673.5:p.Leu150Val
ENST00000647774.1:c.726C>G
ENST00000323322.9:c.448C>G (GH1)	ENSP00000312673.5:p.Leu150Val
ENST00000342364.8:c.172-262C>G (GH1)	ENSP00000339278.4:n.172-262C>G
ENST00000351388.8:c.328C>G (GH1)	ENSP00000343791.4:p.Leu110Val
ENST00000392824.8:c.10+999C>G (CSHL1)	ENSP00000376569.5:n.10+999C>G
ENST00000458650.6:c.403C>G (GH1)	ENSP00000408486.2:p.Leu135Val
ENST00000579711.1:n.809C>G (GH1)
ENST00000617086.1:c.11-262C>G (GH1)	ENSP00000481276.1:n.11-262C>G
NM_000515.4:c.448C>G (GH1)	NP_000506.2:p.Leu150Val
NM_022559.3:c.403C>G (GH1)	NP_072053.1:p.Leu135Val
NM_022560.3:c.328C>G (GH1)	NP_072054.1:p.Leu110Val
XM_011524612.1:c.448C>G (GH1)	XP_011522914.1:p.Leu150Val
XR_002958148.1:n.389-22G>C
NM_000515.5:c.448C>G (GH1) MANE Select	NP_000506.2:p.Leu150Val
NM_022559.4:c.403C>G (GH1)	NP_072053.1:p.Leu135Val
NM_022560.4:c.328C>G (GH1)	NP_072054.1:p.Leu110Val