Canonical Allele Identifier: CA500992037

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189267A>C , CM000679.2:g.50189267A>C	GRCh38
NC_000017.10:g.48266628A>C , CM000679.1:g.48266628A>C	GRCh37
NC_000017.9:g.45621627A>C	NCBI36
NG_007400.1:g.17373T>G , LRG_1:g.17373T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2838T>G MANE Select	ENSP00000225964.6:p.Pro946=
ENST00000225964.9:c.2838T>G	ENSP00000225964.5:p.Pro946=
NM_000088.3:c.2838T>G , LRG_1t1:c.2838T>G	NP_000079.2:p.Pro946=
XM_005257058.3:c.2668-257T>G	XP_005257115.2:n.2668-257T>G
XM_005257059.3:c.1920T>G	XP_005257116.2:p.Pro640=
XM_011524341.1:c.2640T>G	XP_011522643.1:p.Pro880=
XM_005257058.4:c.2668-257T>G	XP_005257115.2:n.2668-257T>G
XM_005257059.4:c.1920T>G	XP_005257116.2:p.Pro640=
NM_000088.4:c.2838T>G MANE Select	NP_000079.2:p.Pro946=