Canonical Allele Identifier: CA356664943

Gene: LIAS

Linked Data

• MyVariant Identifiers: chr4:g.39469190A>C (hg19) ; chr4:g.39467570A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467570A>C , CM000666.2:g.39467570A>C	GRCh38
NC_000004.11:g.39469190A>C , CM000666.1:g.39469190A>C	GRCh37
NC_000004.10:g.39145585A>C	NCBI36
NG_032111.1:g.13526A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.352A>C	ENSP00000261434.4:p.Lys118Gln
ENST00000340169.7:c.661A>C	ENSP00000340676.2:p.Lys221Gln
ENST00000381846.2:c.608+2228A>C	ENSP00000371270.1:n.608+2228A>C
ENST00000513731.6:c.271A>C	ENSP00000425580.1:p.Lys91Gln
ENST00000638422.1:c.661A>C	ENSP00000491001.1:p.Lys221Gln
ENST00000638430.1:c.358A>C
ENST00000638451.1:c.300-2449A>C	ENSP00000491681.1:n.300-2449A>C
ENST00000638816.1:c.375A>C	ENSP00000492482.1:n.375A>C
ENST00000639422.1:c.*17A>C	ENSP00000491899.1:n.*17A>C
ENST00000640349.1:c.547A>C	ENSP00000491477.1:p.Lys183Gln
ENST00000640381.1:n.721A>C
ENST00000640672.1:c.368+2228A>C	ENSP00000492203.1:n.368+2228A>C
ENST00000640689.1:c.*264A>C	ENSP00000491591.1:n.*264A>C
ENST00000640888.2:c.661A>C MANE Select	ENSP00000492260.1:p.Lys221Gln
ENST00000261434.7:c.661A>C	ENSP00000261434.3:p.Lys221Gln
ENST00000340169.6:c.661A>C	ENSP00000340676.2:p.Lys221Gln
ENST00000381846.1:c.608+2228A>C	ENSP00000371270.1:n.608+2228A>C
ENST00000513731.5:c.271A>C	ENSP00000425580.1:p.Lys91Gln
NM_001278590.1:c.608+2228A>C	NP_001265519.1:n.608+2228A>C
NM_006859.3:c.661A>C	NP_006850.2:p.Lys221Gln
NM_194451.2:c.661A>C	NP_919433.1:p.Lys221Gln
XM_006713990.2:c.300-2449A>C	XP_006714053.1:n.300-2449A>C
NM_001363700.1:c.352A>C	NP_001350629.1:p.Lys118Gln
XM_006713990.3:c.300-2449A>C	XP_006714053.1:n.300-2449A>C
XM_017007665.2:c.608+2228A>C	XP_016863154.1:n.608+2228A>C
XR_001741096.2:n.749A>C
NM_001278590.2:c.608+2228A>C	NP_001265519.1:n.608+2228A>C
NM_001363700.2:c.352A>C	NP_001350629.1:p.Lys118Gln
NM_006859.4:c.661A>C MANE Select	NP_006850.2:p.Lys221Gln
NM_194451.3:c.661A>C	NP_919433.1:p.Lys221Gln