Canonical Allele Identifier: CA356664928

Gene: LIAS

Linked Data

• MyVariant Identifiers: chr4:g.39469182G>C (hg19) ; chr4:g.39467562G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467562G>C , CM000666.2:g.39467562G>C	GRCh38
NC_000004.11:g.39469182G>C , CM000666.1:g.39469182G>C	GRCh37
NC_000004.10:g.39145577G>C	NCBI36
NG_032111.1:g.13518G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.344G>C	ENSP00000261434.4:p.Gly115Ala
ENST00000340169.7:c.653G>C	ENSP00000340676.2:p.Gly218Ala
ENST00000381846.2:c.608+2220G>C	ENSP00000371270.1:n.608+2220G>C
ENST00000513731.6:c.263G>C	ENSP00000425580.1:p.Gly88Ala
ENST00000638422.1:c.653G>C	ENSP00000491001.1:p.Gly218Ala
ENST00000638430.1:c.350G>C
ENST00000638451.1:c.300-2457G>C	ENSP00000491681.1:n.300-2457G>C
ENST00000638816.1:c.367G>C	ENSP00000492482.1:n.367G>C
ENST00000639422.1:c.*9G>C	ENSP00000491899.1:n.*9G>C
ENST00000640349.1:c.539G>C	ENSP00000491477.1:p.Gly180Ala
ENST00000640381.1:n.713G>C
ENST00000640672.1:c.368+2220G>C	ENSP00000492203.1:n.368+2220G>C
ENST00000640689.1:c.*256G>C	ENSP00000491591.1:n.*256G>C
ENST00000640888.2:c.653G>C MANE Select	ENSP00000492260.1:p.Gly218Ala
ENST00000261434.7:c.653G>C	ENSP00000261434.3:p.Gly218Ala
ENST00000340169.6:c.653G>C	ENSP00000340676.2:p.Gly218Ala
ENST00000381846.1:c.608+2220G>C	ENSP00000371270.1:n.608+2220G>C
ENST00000513731.5:c.263G>C	ENSP00000425580.1:p.Gly88Ala
NM_001278590.1:c.608+2220G>C	NP_001265519.1:n.608+2220G>C
NM_006859.3:c.653G>C	NP_006850.2:p.Gly218Ala
NM_194451.2:c.653G>C	NP_919433.1:p.Gly218Ala
XM_006713990.2:c.300-2457G>C	XP_006714053.1:n.300-2457G>C
NM_001363700.1:c.344G>C	NP_001350629.1:p.Gly115Ala
XM_006713990.3:c.300-2457G>C	XP_006714053.1:n.300-2457G>C
XM_017007665.2:c.608+2220G>C	XP_016863154.1:n.608+2220G>C
XR_001741096.2:n.741G>C
NM_001278590.2:c.608+2220G>C	NP_001265519.1:n.608+2220G>C
NM_001363700.2:c.344G>C	NP_001350629.1:p.Gly115Ala
NM_006859.4:c.653G>C MANE Select	NP_006850.2:p.Gly218Ala
NM_194451.3:c.653G>C	NP_919433.1:p.Gly218Ala