Canonical Allele Identifier: CA237502767

Gene: TESPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54974463C>A , CM000674.2:g.54974463C>A	GRCh38
NC_000012.11:g.55368247C>A , CM000674.1:g.55368247C>A	GRCh37
NC_000012.10:g.53654514C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001136030.3:c.100G>T MANE Select	NP_001129502.1:p.Ala34Ser
ENST00000449076.6:c.100G>T MANE Select	ENSP00000400892.1:p.Ala34Ser
NM_001098815.2:c.100G>T	NP_001092285.1:p.Ala34Ser
NM_001098815.3:c.100G>T	NP_001092285.1:p.Ala34Ser
NM_001136030.2:c.100G>T	NP_001129502.1:p.Ala34Ser
NM_001351149.1:c.100G>T	NP_001338078.1:p.Ala34Ser
NM_001351149.2:c.100G>T	NP_001338078.1:p.Ala34Ser
NR_147062.1:n.480G>T
NR_147062.2:n.496G>T
NR_147063.1:n.307G>T
NR_147063.2:n.323G>T
NR_147064.1:n.312G>T
NR_147064.2:n.312G>T
ENST00000316577.12:c.100G>T	ENSP00000312679.8:p.Ala34Ser
ENST00000449076.5:c.100G>T	ENSP00000400892.1:p.Ala34Ser
ENST00000524668.5:c.100G>T	ENSP00000436635.1:p.Ala34Ser
ENST00000525978.5:c.96G>T
ENST00000533607.1:c.100G>T	ENSP00000433895.1:p.Ala34Ser
XM_005269246.3:c.100G>T	XP_005269303.1:p.Ala34Ser
XM_005269247.2:c.-436G>T	XP_005269304.1:n.-436G>T
XM_006719715.2:c.100G>T	XP_006719778.1:p.Ala34Ser
XM_006719715.3:c.100G>T	XP_006719778.1:p.Ala34Ser
XM_011539035.1:c.100G>T	XP_011537337.1:p.Ala34Ser
XM_011539035.2:c.100G>T	XP_011537337.1:p.Ala34Ser
XM_011539036.1:c.100G>T	XP_011537338.1:p.Ala34Ser
XM_011539037.1:c.100G>T	XP_011537339.1:p.Ala34Ser
XM_011539037.3:c.100G>T	XP_011537339.1:p.Ala34Ser
XM_017020262.1:c.100G>T	XP_016875751.1:p.Ala34Ser
XM_017020263.1:c.100G>T	XP_016875752.1:p.Ala34Ser
XR_001748928.1:n.1704G>T
XR_944847.1:n.315G>T