Canonical Allele Identifier: CA356664897

Gene: LIAS

Linked Data

• ClinVar Variation Id: 1415414
• ClinVar RCV Id: RCV001933071
• dbSNP Id: rs1268712461
• gnomAD v4: 4-39467547-C-T
• MyVariant Identifiers: chr4:g.39469167C>T (hg19) ; chr4:g.39467547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467547C>T , CM000666.2:g.39467547C>T	GRCh38
NC_000004.11:g.39469167C>T , CM000666.1:g.39469167C>T	GRCh37
NC_000004.10:g.39145562C>T	NCBI36
NG_032111.1:g.13503C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.329C>T	ENSP00000261434.4:p.Thr110Ile
ENST00000340169.7:c.638C>T	ENSP00000340676.2:p.Thr213Ile
ENST00000381846.2:c.608+2205C>T	ENSP00000371270.1:n.608+2205C>T
ENST00000513731.6:c.248C>T	ENSP00000425580.1:p.Thr83Ile
ENST00000638422.1:c.638C>T	ENSP00000491001.1:p.Thr213Ile
ENST00000638430.1:c.335C>T
ENST00000638451.1:c.300-2472C>T	ENSP00000491681.1:n.300-2472C>T
ENST00000638816.1:c.352C>T	ENSP00000492482.1:n.352C>T
ENST00000639422.1:c.423C>T	ENSP00000491899.1:p.Tyr141=
ENST00000640349.1:c.524C>T	ENSP00000491477.1:p.Thr175Ile
ENST00000640381.1:n.698C>T
ENST00000640672.1:c.368+2205C>T	ENSP00000492203.1:n.368+2205C>T
ENST00000640689.1:c.*241C>T	ENSP00000491591.1:n.*241C>T
ENST00000640888.2:c.638C>T MANE Select	ENSP00000492260.1:p.Thr213Ile
ENST00000261434.7:c.638C>T	ENSP00000261434.3:p.Thr213Ile
ENST00000340169.6:c.638C>T	ENSP00000340676.2:p.Thr213Ile
ENST00000381846.1:c.608+2205C>T	ENSP00000371270.1:n.608+2205C>T
ENST00000513731.5:c.248C>T	ENSP00000425580.1:p.Thr83Ile
NM_001278590.1:c.608+2205C>T	NP_001265519.1:n.608+2205C>T
NM_006859.3:c.638C>T	NP_006850.2:p.Thr213Ile
NM_194451.2:c.638C>T	NP_919433.1:p.Thr213Ile
XM_006713990.2:c.300-2472C>T	XP_006714053.1:n.300-2472C>T
NM_001363700.1:c.329C>T	NP_001350629.1:p.Thr110Ile
XM_006713990.3:c.300-2472C>T	XP_006714053.1:n.300-2472C>T
XM_017007665.2:c.608+2205C>T	XP_016863154.1:n.608+2205C>T
XR_001741096.2:n.726C>T
NM_001278590.2:c.608+2205C>T	NP_001265519.1:n.608+2205C>T
NM_001363700.2:c.329C>T	NP_001350629.1:p.Thr110Ile
NM_006859.4:c.638C>T MANE Select	NP_006850.2:p.Thr213Ile
NM_194451.3:c.638C>T	NP_919433.1:p.Thr213Ile