Canonical Allele Identifier: CA394875886

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248834G>C (hg19) ; chr16:g.16154977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154977G>C , CM000678.2:g.16154977G>C	GRCh38
NC_000016.9:g.16248834G>C , CM000678.1:g.16248834G>C	GRCh37
NC_000016.8:g.16156335G>C	NCBI36
NG_007558.2:g.73495C>G
NG_007558.3:g.73641C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.800C>G
ENST00000622290.5:c.*109C>G	ENSP00000483331.2:n.*109C>G
ENST00000205557.12:c.3937C>G MANE Select	ENSP00000205557.7:p.Leu1313Val
ENST00000640696.1:c.751C>G	ENSP00000492197.1:p.Leu251Val
ENST00000205557.11:c.3937C>G	ENSP00000205557.7:p.Leu1313Val
ENST00000456970.6:c.3562C>G	ENSP00000405002.2:n.3562C>G
ENST00000576204.5:n.800C>G
ENST00000622290.4:c.*1146C>G	ENSP00000483331.1:n.*1146C>G
NM_001171.5:c.3937C>G	NP_001162.4:p.Leu1313Val
XM_011522479.1:c.3904C>G	XP_011520781.1:p.Leu1302Val
XM_011522480.1:c.3595C>G	XP_011520782.1:p.Leu1199Val
XM_011522481.1:c.3595C>G	XP_011520783.1:p.Leu1199Val
XR_932836.1:n.4235C>G
XR_932837.1:n.3973C>G
XR_932838.1:n.4036C>G
XR_933134.1:n.539-4804G>C
NM_001351800.1:c.3595C>G	NP_001338729.1:p.Leu1199Val
NR_147784.1:n.3599C>G
XM_011522479.2:c.3904C>G	XP_011520781.1:p.Leu1302Val
XM_011522481.3:c.3595C>G	XP_011520783.1:p.Leu1199Val
XM_017023212.1:c.3769C>G	XP_016878701.1:p.Leu1257Val
XM_024450261.1:c.3973C>G	XP_024306029.1:p.Leu1325Val
XR_932836.2:n.4181C>G
XR_932837.3:n.3918C>G
XR_932838.3:n.3981C>G
NM_001171.6:c.3937C>G MANE Select	NP_001162.5:p.Leu1313Val