Canonical Allele Identifier: CA394888196

Gene: ABCC6

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16178961A>G , CM000678.2:g.16178961A>G	GRCh38
NC_000016.9:g.16272818A>G , CM000678.1:g.16272818A>G	GRCh37
NC_000016.8:g.16180319A>G	NCBI36
NG_007558.2:g.49511T>C
NG_007558.3:g.49657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2252T>C	ENSP00000483331.2:p.Met751Thr
ENST00000205557.12:c.2252T>C MANE Select	ENSP00000205557.7:p.Met751Thr
ENST00000205557.11:c.2252T>C	ENSP00000205557.7:p.Met751Thr
ENST00000456970.6:c.2252T>C	ENSP00000405002.2:p.Met751Thr
ENST00000622290.4:c.2252T>C	ENSP00000483331.1:p.Met751Thr
NM_001171.5:c.2252T>C	NP_001162.4:p.Met751Thr
XM_011522479.1:c.2252T>C	XP_011520781.1:p.Met751Thr
XM_011522480.1:c.1910T>C	XP_011520782.1:p.Met637Thr
XM_011522481.1:c.1910T>C	XP_011520783.1:p.Met637Thr
XM_011522482.1:c.2252T>C	XP_011520784.1:p.Met751Thr
XR_932836.1:n.2487T>C
XR_932837.1:n.2488T>C
XR_932838.1:n.2488T>C
NM_001351800.1:c.1910T>C	NP_001338729.1:p.Met637Thr
NR_147784.1:n.2289T>C
XM_011522479.2:c.2252T>C	XP_011520781.1:p.Met751Thr
XM_011522481.3:c.1910T>C	XP_011520783.1:p.Met637Thr
XM_011522482.3:c.2252T>C	XP_011520784.1:p.Met751Thr
XM_017023212.1:c.2248-1335T>C	XP_016878701.1:n.2248-1335T>C
XM_017023214.1:c.2252T>C	XP_016878703.1:p.Met751Thr
XM_024450261.1:c.2288T>C	XP_024306029.1:p.Met763Thr
XR_932836.2:n.2433T>C
XR_932837.3:n.2433T>C
XR_932838.3:n.2433T>C
NM_001171.6:c.2252T>C MANE Select	NP_001162.5:p.Met751Thr