Canonical Allele Identifier: CA4174478

Gene: TWIST1

Linked Data

• dbSNP Id: rs773699341
• ExAC: 7:19156483 C / A
• gnomAD v2: 7-19156483-C-A
• MyVariant Identifiers: chr7:g.19156483C>A (hg19) ; chr7:g.19116860C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116860C>A , CM000669.2:g.19116860C>A	GRCh38
NC_000007.13:g.19156483C>A , CM000669.1:g.19156483C>A	GRCh37
NC_000007.12:g.19123008C>A	NCBI36
NG_008114.1:g.5813G>T
NG_008114.2:g.5813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.462G>T MANE Select	ENSP00000242261.5:p.Arg154Ser
ENST00000242261.5:c.462G>T	ENSP00000242261.5:p.Arg154Ser
ENST00000354571.5:c.259G>T
ENST00000443687.5:c.65G>T
NM_000474.3:c.462G>T	NP_000465.1:p.Arg154Ser
XM_011515496.1:c.462G>T	XP_011513798.1:p.Arg154Ser
NR_149001.1:n.813G>T
NM_000474.4:c.462G>T MANE Select	NP_000465.1:p.Arg154Ser
NR_149001.2:n.777G>T