Canonical Allele Identifier: CA400612054

Gene: GH1 CSHL1

Linked Data

• MyVariant Identifiers: chr17:g.61995254G>C (hg19) ; chr17:g.63917894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917894G>C , CM000679.2:g.63917894G>C	GRCh38
NC_000017.10:g.61995254G>C , CM000679.1:g.61995254G>C	GRCh37
NC_000017.9:g.59348986G>C	NCBI36
NG_011676.1:g.5945C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.322C>G (GH1) MANE Select	ENSP00000312673.5:p.Leu108Val
ENST00000647774.1:c.600C>G
ENST00000323322.9:c.322C>G (GH1)	ENSP00000312673.5:p.Leu108Val
ENST00000342364.8:c.172-388C>G (GH1)	ENSP00000339278.4:n.172-388C>G
ENST00000351388.8:c.202C>G (GH1)	ENSP00000343791.4:p.Leu68Val
ENST00000392824.8:c.10+873C>G (CSHL1)	ENSP00000376569.5:n.10+873C>G
ENST00000458650.6:c.277C>G (GH1)	ENSP00000408486.2:p.Leu93Val
ENST00000579711.1:n.683C>G (GH1)
ENST00000617086.1:c.11-388C>G (GH1)	ENSP00000481276.1:n.11-388C>G
NM_000515.4:c.322C>G (GH1)	NP_000506.2:p.Leu108Val
NM_022559.3:c.277C>G (GH1)	NP_072053.1:p.Leu93Val
NM_022560.3:c.202C>G (GH1)	NP_072054.1:p.Leu68Val
XM_011524612.1:c.322C>G (GH1)	XP_011522914.1:p.Leu108Val
NM_000515.5:c.322C>G (GH1) MANE Select	NP_000506.2:p.Leu108Val
NM_022559.4:c.277C>G (GH1)	NP_072053.1:p.Leu93Val
NM_022560.4:c.202C>G (GH1)	NP_072054.1:p.Leu68Val