Canonical Allele Identifier: CA394883635

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244087A>T (hg19) ; chr16:g.16150230A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150230A>T , CM000678.2:g.16150230A>T	GRCh38
NC_000016.9:g.16244087A>T , CM000678.1:g.16244087A>T	GRCh37
NC_000016.8:g.16151588A>T	NCBI36
NG_007558.2:g.78242T>A
NG_007558.3:g.78388T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*587T>A	ENSP00000483331.2:n.*587T>A
ENST00000205557.12:c.4415T>A MANE Select	ENSP00000205557.7:p.Met1472Lys
ENST00000640696.1:c.1229T>A	ENSP00000492197.1:p.Met410Lys
ENST00000205557.11:c.4415T>A	ENSP00000205557.7:p.Met1472Lys
ENST00000456970.6:c.4040T>A	ENSP00000405002.2:n.4040T>A
ENST00000576204.5:n.1278T>A
ENST00000622290.4:c.*1624T>A	ENSP00000483331.1:n.*1624T>A
NM_001171.5:c.4415T>A	NP_001162.4:p.Met1472Lys
XM_011522479.1:c.4382T>A	XP_011520781.1:p.Met1461Lys
XM_011522480.1:c.4073T>A	XP_011520782.1:p.Met1358Lys
XM_011522481.1:c.4073T>A	XP_011520783.1:p.Met1358Lys
XR_933134.1:n.538+5940A>T
NM_001351800.1:c.4073T>A	NP_001338729.1:p.Met1358Lys
NR_147784.1:n.4077T>A
XM_011522479.2:c.4382T>A	XP_011520781.1:p.Met1461Lys
XM_011522481.3:c.4073T>A	XP_011520783.1:p.Met1358Lys
XM_017023212.1:c.4247T>A	XP_016878701.1:p.Met1416Lys
XM_024450261.1:c.4451T>A	XP_024306029.1:p.Met1484Lys
NM_001171.6:c.4415T>A MANE Select	NP_001162.5:p.Met1472Lys