Canonical Allele Identifier: CA394881703

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16257045A>C (hg19) ; chr16:g.16163188A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163188A>C , CM000678.2:g.16163188A>C	GRCh38
NC_000016.9:g.16257045A>C , CM000678.1:g.16257045A>C	GRCh37
NC_000016.8:g.16164546A>C	NCBI36
NG_007558.2:g.65284T>G
NG_007558.3:g.65430T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3311T>G	ENSP00000483331.2:p.Leu1104Arg
ENST00000205557.12:c.3311T>G MANE Select	ENSP00000205557.7:p.Leu1104Arg
ENST00000640696.1:c.321-1624T>G	ENSP00000492197.1:n.321-1624T>G
ENST00000205557.11:c.3311T>G	ENSP00000205557.7:p.Leu1104Arg
ENST00000456970.6:c.3132-1624T>G	ENSP00000405002.2:n.3132-1624T>G
ENST00000622290.4:c.*520T>G	ENSP00000483331.1:n.*520T>G
NM_001171.5:c.3311T>G	NP_001162.4:p.Leu1104Arg
XM_011522479.1:c.3278T>G	XP_011520781.1:p.Leu1093Arg
XM_011522480.1:c.2969T>G	XP_011520782.1:p.Leu990Arg
XM_011522481.1:c.2969T>G	XP_011520783.1:p.Leu990Arg
XR_932836.1:n.3546T>G
XR_932837.1:n.3543-1624T>G
XR_932838.1:n.3543-1624T>G
XR_933133.1:n.407+345A>C
XR_933134.1:n.754+345A>C
NM_001351800.1:c.2969T>G	NP_001338729.1:p.Leu990Arg
NR_147784.1:n.3169-1624T>G
XM_011522479.2:c.3278T>G	XP_011520781.1:p.Leu1093Arg
XM_011522481.3:c.2969T>G	XP_011520783.1:p.Leu990Arg
XM_017023212.1:c.3143T>G	XP_016878701.1:p.Leu1048Arg
XM_017023214.1:c.3307-1624T>G	XP_016878703.1:n.3307-1624T>G
XM_024450261.1:c.3347T>G	XP_024306029.1:p.Leu1116Arg
XR_932836.2:n.3492T>G
XR_932837.3:n.3488-1624T>G
XR_932838.3:n.3488-1624T>G
NM_001171.6:c.3311T>G MANE Select	NP_001162.5:p.Leu1104Arg