Canonical Allele Identifier: CA394881694

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1458858
• ClinVar RCV Id: RCV001949612
• dbSNP Id: rs1268592638
• MyVariant Identifiers: chr16:g.16257041A>C (hg19) ; chr16:g.16163184A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163184A>C , CM000678.2:g.16163184A>C	GRCh38
NC_000016.9:g.16257041A>C , CM000678.1:g.16257041A>C	GRCh37
NC_000016.8:g.16164542A>C	NCBI36
NG_007558.2:g.65288T>G
NG_007558.3:g.65434T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3315T>G	ENSP00000483331.2:p.Tyr1105Ter
ENST00000205557.12:c.3315T>G MANE Select	ENSP00000205557.7:p.Tyr1105Ter
ENST00000640696.1:c.321-1620T>G	ENSP00000492197.1:n.321-1620T>G
ENST00000205557.11:c.3315T>G	ENSP00000205557.7:p.Tyr1105Ter
ENST00000456970.6:c.3132-1620T>G	ENSP00000405002.2:n.3132-1620T>G
ENST00000622290.4:c.*524T>G	ENSP00000483331.1:n.*524T>G
NM_001171.5:c.3315T>G	NP_001162.4:p.Tyr1105Ter
XM_011522479.1:c.3282T>G	XP_011520781.1:p.Tyr1094Ter
XM_011522480.1:c.2973T>G	XP_011520782.1:p.Tyr991Ter
XM_011522481.1:c.2973T>G	XP_011520783.1:p.Tyr991Ter
XR_932836.1:n.3550T>G
XR_932837.1:n.3543-1620T>G
XR_932838.1:n.3543-1620T>G
XR_933133.1:n.407+341A>C
XR_933134.1:n.754+341A>C
NM_001351800.1:c.2973T>G	NP_001338729.1:p.Tyr991Ter
NR_147784.1:n.3169-1620T>G
XM_011522479.2:c.3282T>G	XP_011520781.1:p.Tyr1094Ter
XM_011522481.3:c.2973T>G	XP_011520783.1:p.Tyr991Ter
XM_017023212.1:c.3147T>G	XP_016878701.1:p.Tyr1049Ter
XM_017023214.1:c.3307-1620T>G	XP_016878703.1:n.3307-1620T>G
XM_024450261.1:c.3351T>G	XP_024306029.1:p.Tyr1117Ter
XR_932836.2:n.3496T>G
XR_932837.3:n.3488-1620T>G
XR_932838.3:n.3488-1620T>G
NM_001171.6:c.3315T>G MANE Select	NP_001162.5:p.Tyr1105Ter