Canonical Allele Identifier: CA394883043

Gene: ABCC6

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165741A>G , CM000678.2:g.16165741A>G	GRCh38
NC_000016.9:g.16259598A>G , CM000678.1:g.16259598A>G	GRCh37
NC_000016.8:g.16167099A>G	NCBI36
NG_007558.2:g.62731T>C
NG_007558.3:g.62877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3188T>C	ENSP00000483331.2:p.Leu1063Pro
ENST00000205557.12:c.3188T>C MANE Select	ENSP00000205557.7:p.Leu1063Pro
ENST00000640696.1:c.203T>C	ENSP00000492197.1:p.Leu68Pro
ENST00000205557.11:c.3188T>C	ENSP00000205557.7:p.Leu1063Pro
ENST00000456970.6:c.3013T>C	ENSP00000405002.2:n.3013T>C
ENST00000622290.4:c.*397T>C	ENSP00000483331.1:n.*397T>C
NM_001171.5:c.3188T>C	NP_001162.4:p.Leu1063Pro
XM_011522479.1:c.3155T>C	XP_011520781.1:p.Leu1052Pro
XM_011522480.1:c.2846T>C	XP_011520782.1:p.Leu949Pro
XM_011522481.1:c.2846T>C	XP_011520783.1:p.Leu949Pro
XR_932836.1:n.3423T>C
XR_932837.1:n.3424T>C
XR_932838.1:n.3424T>C
NM_001351800.1:c.2846T>C	NP_001338729.1:p.Leu949Pro
NR_147784.1:n.3050T>C
XM_011522479.2:c.3155T>C	XP_011520781.1:p.Leu1052Pro
XM_011522481.3:c.2846T>C	XP_011520783.1:p.Leu949Pro
XM_017023212.1:c.3020T>C	XP_016878701.1:p.Leu1007Pro
XM_017023214.1:c.3188T>C	XP_016878703.1:p.Leu1063Pro
XM_024450261.1:c.3224T>C	XP_024306029.1:p.Leu1075Pro
XR_932836.2:n.3369T>C
XR_932837.3:n.3369T>C
XR_932838.3:n.3369T>C
NM_001171.6:c.3188T>C MANE Select	NP_001162.5:p.Leu1063Pro