Canonical Allele Identifier: CA394883020

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259583A>T (hg19) ; chr16:g.16165726A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165726A>T , CM000678.2:g.16165726A>T	GRCh38
NC_000016.9:g.16259583A>T , CM000678.1:g.16259583A>T	GRCh37
NC_000016.8:g.16167084A>T	NCBI36
NG_007558.2:g.62746T>A
NG_007558.3:g.62892T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3203T>A	ENSP00000483331.2:p.Met1068Lys
ENST00000205557.12:c.3203T>A MANE Select	ENSP00000205557.7:p.Met1068Lys
ENST00000640696.1:c.218T>A	ENSP00000492197.1:p.Met73Lys
ENST00000205557.11:c.3203T>A	ENSP00000205557.7:p.Met1068Lys
ENST00000456970.6:c.3028T>A	ENSP00000405002.2:n.3028T>A
ENST00000622290.4:c.*412T>A	ENSP00000483331.1:n.*412T>A
NM_001171.5:c.3203T>A	NP_001162.4:p.Met1068Lys
XM_011522479.1:c.3170T>A	XP_011520781.1:p.Met1057Lys
XM_011522480.1:c.2861T>A	XP_011520782.1:p.Met954Lys
XM_011522481.1:c.2861T>A	XP_011520783.1:p.Met954Lys
XR_932836.1:n.3438T>A
XR_932837.1:n.3439T>A
XR_932838.1:n.3439T>A
NM_001351800.1:c.2861T>A	NP_001338729.1:p.Met954Lys
NR_147784.1:n.3065T>A
XM_011522479.2:c.3170T>A	XP_011520781.1:p.Met1057Lys
XM_011522481.3:c.2861T>A	XP_011520783.1:p.Met954Lys
XM_017023212.1:c.3035T>A	XP_016878701.1:p.Met1012Lys
XM_017023214.1:c.3203T>A	XP_016878703.1:p.Met1068Lys
XM_024450261.1:c.3239T>A	XP_024306029.1:p.Met1080Lys
XR_932836.2:n.3384T>A
XR_932837.3:n.3384T>A
XR_932838.3:n.3384T>A
NM_001171.6:c.3203T>A MANE Select	NP_001162.5:p.Met1068Lys