Canonical Allele Identifier: CA394188407

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412625T>C (hg19) ; chr16:g.1362624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362624T>C , CM000678.2:g.1362624T>C	GRCh38
NC_000016.9:g.1412625T>C , CM000678.1:g.1412625T>C	GRCh37
NC_000016.8:g.1352626T>C	NCBI36
NG_016985.1:g.15726T>C
NG_033129.1:g.57081A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.722T>C
ENST00000529110.2:c.707T>C	ENSP00000435349.2:p.Leu236Ser
ENST00000529957.6:n.681T>C
ENST00000683366.1:c.*355T>C	ENSP00000507283.1:n.*355T>C
ENST00000683887.1:c.671T>C	ENSP00000506886.1:p.Leu224Ser
ENST00000684100.1:n.617T>C
ENST00000684126.1:n.757T>C
ENST00000684688.1:n.1248T>C
ENST00000204679.9:c.623T>C MANE Select	ENSP00000204679.4:p.Leu208Ser
ENST00000204679.8:c.623T>C	ENSP00000204679.4:p.Leu208Ser
ENST00000527076.1:n.1846T>C
ENST00000527168.5:n.790T>C
ENST00000529957.5:n.722T>C
NM_032520.4:c.623T>C	NP_115909.1:p.Leu208Ser
XM_017023782.1:c.671T>C	XP_016879271.1:p.Leu224Ser
XM_017023783.1:c.263T>C	XP_016879272.1:p.Leu88Ser
NM_032520.5:c.623T>C MANE Select	NP_115909.1:p.Leu208Ser