Canonical Allele Identifier: CA378207671

Gene: TWNK

Linked Data

• gnomAD v4: 10-100988778-C-A
• MyVariant Identifiers: chr10:g.102748535C>A (hg19) ; chr10:g.100988778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988778C>A , CM000672.2:g.100988778C>A	GRCh38
NC_000010.10:g.102748535C>A , CM000672.1:g.102748535C>A	GRCh37
NC_000010.9:g.102738525C>A	NCBI36
NG_011646.1:g.3738G>T
NG_012624.1:g.6243C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.568C>A MANE Select	ENSP00000309595.2:p.Leu190Ile
ENST00000370228.2:c.568C>A	ENSP00000359248.1:p.Leu190Ile
ENST00000643860.1:c.568C>A	ENSP00000494389.1:p.Leu190Ile
ENST00000646226.1:n.59-866C>A
ENST00000311916.6:c.568C>A	ENSP00000309595.2:p.Leu190Ile
ENST00000370228.1:c.568C>A	ENSP00000359248.1:p.Leu190Ile
ENST00000459764.1:n.87-866C>A
ENST00000473656.5:n.65-866C>A
ENST00000476766.5:n.192-928C>A
NM_001163812.1:c.568C>A	NP_001157284.1:p.Leu190Ile
NM_001163813.1:c.-119-866C>A	NP_001157285.1:n.-119-866C>A
NM_001163814.1:c.-119-866C>A	NP_001157286.1:n.-119-866C>A
NM_021830.4:c.568C>A	NP_068602.2:p.Leu190Ile
XM_011539975.1:c.-57-928C>A	XP_011538277.1:n.-57-928C>A
XR_945788.1:n.1401C>A
XM_011539975.2:c.-57-928C>A	XP_011538277.1:n.-57-928C>A
XM_017016437.1:c.-733C>A	XP_016871926.1:n.-733C>A
XR_001747142.1:n.742C>A
XR_001747144.1:n.742C>A
XR_002956991.1:n.742C>A
XR_945788.2:n.742C>A
NM_021830.5:c.568C>A MANE Select	NP_068602.2:p.Leu190Ile
NM_001163812.2:c.568C>A	NP_001157284.1:p.Leu190Ile
NM_001163813.2:c.-119-866C>A	NP_001157285.1:n.-119-866C>A
NM_001163814.2:c.-119-866C>A	NP_001157286.1:n.-119-866C>A
NM_001368275.1:c.-57-928C>A	NP_001355204.1:n.-57-928C>A
NR_160738.1:n.1236C>A
NR_160739.1:n.72-866C>A
NR_160740.1:n.1236C>A
NR_160741.1:n.1236C>A
NR_160742.1:n.1236C>A