Canonical Allele Identifier: CA394883030

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259589A>T (hg19) ; chr16:g.16165732A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165732A>T , CM000678.2:g.16165732A>T	GRCh38
NC_000016.9:g.16259589A>T , CM000678.1:g.16259589A>T	GRCh37
NC_000016.8:g.16167090A>T	NCBI36
NG_007558.2:g.62740T>A
NG_007558.3:g.62886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3197T>A	ENSP00000483331.2:p.Leu1066Gln
ENST00000205557.12:c.3197T>A MANE Select	ENSP00000205557.7:p.Leu1066Gln
ENST00000640696.1:c.212T>A	ENSP00000492197.1:p.Leu71Gln
ENST00000205557.11:c.3197T>A	ENSP00000205557.7:p.Leu1066Gln
ENST00000456970.6:c.3022T>A	ENSP00000405002.2:n.3022T>A
ENST00000622290.4:c.*406T>A	ENSP00000483331.1:n.*406T>A
NM_001171.5:c.3197T>A	NP_001162.4:p.Leu1066Gln
XM_011522479.1:c.3164T>A	XP_011520781.1:p.Leu1055Gln
XM_011522480.1:c.2855T>A	XP_011520782.1:p.Leu952Gln
XM_011522481.1:c.2855T>A	XP_011520783.1:p.Leu952Gln
XR_932836.1:n.3432T>A
XR_932837.1:n.3433T>A
XR_932838.1:n.3433T>A
NM_001351800.1:c.2855T>A	NP_001338729.1:p.Leu952Gln
NR_147784.1:n.3059T>A
XM_011522479.2:c.3164T>A	XP_011520781.1:p.Leu1055Gln
XM_011522481.3:c.2855T>A	XP_011520783.1:p.Leu952Gln
XM_017023212.1:c.3029T>A	XP_016878701.1:p.Leu1010Gln
XM_017023214.1:c.3197T>A	XP_016878703.1:p.Leu1066Gln
XM_024450261.1:c.3233T>A	XP_024306029.1:p.Leu1078Gln
XR_932836.2:n.3378T>A
XR_932837.3:n.3378T>A
XR_932838.3:n.3378T>A
NM_001171.6:c.3197T>A MANE Select	NP_001162.5:p.Leu1066Gln