Canonical Allele Identifier: CA276658696

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2048951
• ClinVar RCV Id: RCV002932143
• dbSNP Id: rs552248197
• gnomAD v2: 16-1412639-T-C
• gnomAD v3: 16-1362638-T-C
• gnomAD v4: 16-1362638-T-C
• MyVariant Identifiers: chr16:g.1412639T>C (hg19) ; chr16:g.1362638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362638T>C , CM000678.2:g.1362638T>C	GRCh38
NC_000016.9:g.1412639T>C , CM000678.1:g.1412639T>C	GRCh37
NC_000016.8:g.1352640T>C	NCBI36
NG_016985.1:g.15740T>C
NG_033129.1:g.57067A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.736T>C
ENST00000529110.2:c.721T>C	ENSP00000435349.2:p.Phe241Leu
ENST00000529957.6:n.695T>C
ENST00000683366.1:c.*369T>C	ENSP00000507283.1:n.*369T>C
ENST00000683887.1:c.685T>C	ENSP00000506886.1:p.Phe229Leu
ENST00000684100.1:n.631T>C
ENST00000684126.1:n.771T>C
ENST00000684688.1:n.1262T>C
ENST00000204679.9:c.637T>C MANE Select	ENSP00000204679.4:p.Phe213Leu
ENST00000204679.8:c.637T>C	ENSP00000204679.4:p.Phe213Leu
ENST00000527076.1:n.1860T>C
ENST00000527168.5:n.804T>C
ENST00000529957.5:n.736T>C
NM_032520.4:c.637T>C	NP_115909.1:p.Phe213Leu
XM_017023782.1:c.685T>C	XP_016879271.1:p.Phe229Leu
XM_017023783.1:c.277T>C	XP_016879272.1:p.Phe93Leu
NM_032520.5:c.637T>C MANE Select	NP_115909.1:p.Phe213Leu