Canonical Allele Identifier: CA512709635

Gene: COL18A1

Linked Data

• MyVariant Identifiers: chr21:g.46896319T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476405T>C , CM000683.2:g.45476405T>C	GRCh38
NC_000021.8:g.46896319T>C , CM000683.1:g.46896319T>C	GRCh37
NC_000021.7:g.45720747T>C	NCBI36
NG_011903.1:g.76223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.1393T>C	ENSP00000347665.5:p.Leu465=
ENST00000651438.1:c.853T>C MANE Select	ENSP00000498485.1:p.Leu285=
ENST00000355480.9:c.1393T>C	ENSP00000347665.5:p.Leu465=
ENST00000359759.8:c.2098T>C	ENSP00000352798.4:p.Leu700=
ENST00000400337.6:c.853T>C	ENSP00000383191.2:p.Leu285=
NM_030582.3:c.1393T>C	NP_085059.2:p.Leu465=
NM_130444.2:c.2098T>C	NP_569711.2:p.Leu700=
NM_130445.3:c.853T>C	NP_569712.2:p.Leu285=
NM_030582.4:c.1393T>C	NP_085059.2:p.Leu465=
NM_130444.3:c.2098T>C	NP_569711.2:p.Leu700=
NM_130445.4:c.853T>C	NP_569712.2:p.Leu285=
NM_001379500.1:c.853T>C MANE Select	NP_001366429.1:p.Leu285=