Canonical Allele Identifier: CA2894589

Gene: LIAS

Linked Data

• dbSNP Id: rs373034096
• ExAC: 4:39462487 T / G
• gnomAD v2: 4-39462487-T-G
• gnomAD v3: 4-39460867-T-G
• gnomAD v4: 4-39460867-T-G
• MyVariant Identifiers: chr4:g.39462487T>G (hg19) ; chr4:g.39460867T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39460867T>G , CM000666.2:g.39460867T>G	GRCh38
NC_000004.11:g.39462487T>G , CM000666.1:g.39462487T>G	GRCh37
NC_000004.10:g.39138882T>G	NCBI36
NG_032111.1:g.6823T>G
NG_052985.1:g.3082A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.123T>G	ENSP00000261434.4:p.Asn41Lys
ENST00000340169.7:c.123T>G	ENSP00000340676.2:p.Asn41Lys
ENST00000381846.2:c.123T>G	ENSP00000371270.1:p.Asn41Lys
ENST00000513731.6:c.123T>G	ENSP00000425580.1:p.Asn41Lys
ENST00000638422.1:c.123T>G	ENSP00000491001.1:p.Asn41Lys
ENST00000638451.1:c.123T>G	ENSP00000491681.1:p.Asn41Lys
ENST00000638837.1:c.123T>G	ENSP00000492038.1:p.Asn41Lys
ENST00000639422.1:c.123T>G	ENSP00000491899.1:p.Asn41Lys
ENST00000640349.1:c.123T>G	ENSP00000491477.1:p.Asn41Lys
ENST00000640381.1:n.183T>G
ENST00000640489.1:c.*22T>G	ENSP00000492540.1:n.*22T>G
ENST00000640689.1:c.123T>G	ENSP00000491591.1:p.Asn41Lys
ENST00000640888.2:c.123T>G MANE Select	ENSP00000492260.1:p.Asn41Lys
ENST00000261434.7:c.123T>G	ENSP00000261434.3:p.Asn41Lys
ENST00000340169.6:c.123T>G	ENSP00000340676.2:p.Asn41Lys
ENST00000381846.1:c.123T>G	ENSP00000371270.1:p.Asn41Lys
ENST00000424936.6:n.183T>G
ENST00000509519.5:n.196T>G
ENST00000513731.5:c.123T>G	ENSP00000425580.1:p.Asn41Lys
ENST00000515061.1:n.121T>G
NM_001278590.1:c.123T>G	NP_001265519.1:p.Asn41Lys
NM_001278591.1:c.123T>G	NP_001265520.1:p.Asn41Lys
NM_001278592.1:c.123T>G	NP_001265521.1:p.Asn41Lys
NM_006859.3:c.123T>G	NP_006850.2:p.Asn41Lys
NM_194451.2:c.123T>G	NP_919433.1:p.Asn41Lys
XM_006713990.2:c.123T>G	XP_006714053.1:p.Asn41Lys
NM_001363700.1:c.123T>G	NP_001350629.1:p.Asn41Lys
XM_006713990.3:c.123T>G	XP_006714053.1:p.Asn41Lys
XM_017007665.2:c.123T>G	XP_016863154.1:p.Asn41Lys
XR_001741096.2:n.211T>G
NM_001278590.2:c.123T>G	NP_001265519.1:p.Asn41Lys
NM_001363700.2:c.123T>G	NP_001350629.1:p.Asn41Lys
NM_006859.4:c.123T>G MANE Select	NP_006850.2:p.Asn41Lys
NM_194451.3:c.123T>G	NP_919433.1:p.Asn41Lys
NM_001278591.2:c.123T>G	NP_001265520.1:p.Asn41Lys
NM_001278592.2:c.123T>G	NP_001265521.1:p.Asn41Lys