Canonical Allele Identifier: CA356664922

Gene: LIAS

Linked Data

• gnomAD v4: 4-39467559-G-C
• MyVariant Identifiers: chr4:g.39469179G>C (hg19) ; chr4:g.39467559G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467559G>C , CM000666.2:g.39467559G>C	GRCh38
NC_000004.11:g.39469179G>C , CM000666.1:g.39469179G>C	GRCh37
NC_000004.10:g.39145574G>C	NCBI36
NG_032111.1:g.13515G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.341G>C	ENSP00000261434.4:p.Arg114Pro
ENST00000340169.7:c.650G>C	ENSP00000340676.2:p.Arg217Pro
ENST00000381846.2:c.608+2217G>C	ENSP00000371270.1:n.608+2217G>C
ENST00000513731.6:c.260G>C	ENSP00000425580.1:p.Arg87Pro
ENST00000638422.1:c.650G>C	ENSP00000491001.1:p.Arg217Pro
ENST00000638430.1:c.347G>C
ENST00000638451.1:c.300-2460G>C	ENSP00000491681.1:n.300-2460G>C
ENST00000638816.1:c.364G>C	ENSP00000492482.1:n.364G>C
ENST00000639422.1:c.*6G>C	ENSP00000491899.1:n.*6G>C
ENST00000640349.1:c.536G>C	ENSP00000491477.1:p.Arg179Pro
ENST00000640381.1:n.710G>C
ENST00000640672.1:c.368+2217G>C	ENSP00000492203.1:n.368+2217G>C
ENST00000640689.1:c.*253G>C	ENSP00000491591.1:n.*253G>C
ENST00000640888.2:c.650G>C MANE Select	ENSP00000492260.1:p.Arg217Pro
ENST00000261434.7:c.650G>C	ENSP00000261434.3:p.Arg217Pro
ENST00000340169.6:c.650G>C	ENSP00000340676.2:p.Arg217Pro
ENST00000381846.1:c.608+2217G>C	ENSP00000371270.1:n.608+2217G>C
ENST00000513731.5:c.260G>C	ENSP00000425580.1:p.Arg87Pro
NM_001278590.1:c.608+2217G>C	NP_001265519.1:n.608+2217G>C
NM_006859.3:c.650G>C	NP_006850.2:p.Arg217Pro
NM_194451.2:c.650G>C	NP_919433.1:p.Arg217Pro
XM_006713990.2:c.300-2460G>C	XP_006714053.1:n.300-2460G>C
NM_001363700.1:c.341G>C	NP_001350629.1:p.Arg114Pro
XM_006713990.3:c.300-2460G>C	XP_006714053.1:n.300-2460G>C
XM_017007665.2:c.608+2217G>C	XP_016863154.1:n.608+2217G>C
XR_001741096.2:n.738G>C
NM_001278590.2:c.608+2217G>C	NP_001265519.1:n.608+2217G>C
NM_001363700.2:c.341G>C	NP_001350629.1:p.Arg114Pro
NM_006859.4:c.650G>C MANE Select	NP_006850.2:p.Arg217Pro
NM_194451.3:c.650G>C	NP_919433.1:p.Arg217Pro