Canonical Allele Identifier: CA493799497

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263633G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169776G>A , CM000678.2:g.16169776G>A	GRCh38
NC_000016.9:g.16263633G>A , CM000678.1:g.16263633G>A	GRCh37
NC_000016.8:g.16171134G>A	NCBI36
NG_007558.2:g.58696C>T
NG_007558.3:g.58842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2865C>T	ENSP00000483331.2:p.Leu955=
ENST00000205557.12:c.2865C>T MANE Select	ENSP00000205557.7:p.Leu955=
ENST00000205557.11:c.2865C>T	ENSP00000205557.7:p.Leu955=
ENST00000456970.6:c.2690C>T	ENSP00000405002.2:n.2690C>T
ENST00000622290.4:c.*74C>T	ENSP00000483331.1:n.*74C>T
NM_001171.5:c.2865C>T	NP_001162.4:p.Leu955=
XM_011522479.1:c.2832C>T	XP_011520781.1:p.Leu944=
XM_011522480.1:c.2523C>T	XP_011520782.1:p.Leu841=
XM_011522481.1:c.2523C>T	XP_011520783.1:p.Leu841=
XR_932836.1:n.3100C>T
XR_932837.1:n.3101C>T
XR_932838.1:n.3101C>T
NM_001351800.1:c.2523C>T	NP_001338729.1:p.Leu841=
NR_147784.1:n.2727C>T
XM_011522479.2:c.2832C>T	XP_011520781.1:p.Leu944=
XM_011522481.3:c.2523C>T	XP_011520783.1:p.Leu841=
XM_017023212.1:c.2697C>T	XP_016878701.1:p.Leu899=
XM_017023214.1:c.2865C>T	XP_016878703.1:p.Leu955=
XM_024450261.1:c.2901C>T	XP_024306029.1:p.Leu967=
XR_932836.2:n.3046C>T
XR_932837.3:n.3046C>T
XR_932838.3:n.3046C>T
NM_001171.6:c.2865C>T MANE Select	NP_001162.5:p.Leu955=