Canonical Allele Identifier: CA400215495

Gene: COL1A1

Linked Data

• dbSNP Id: rs1346691372
• gnomAD v2: 17-48271381-G-T
• gnomAD v4: 17-50194020-G-T
• MyVariant Identifiers: chr17:g.48271381G>T (hg19) ; chr17:g.50194020G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194020G>T , CM000679.2:g.50194020G>T	GRCh38
NC_000017.10:g.48271381G>T , CM000679.1:g.48271381G>T	GRCh37
NC_000017.9:g.45626380G>T	NCBI36
NG_007400.1:g.12620C>A , LRG_1:g.12620C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1690C>A MANE Select	ENSP00000225964.6:p.Arg564Ser
ENST00000225964.9:c.1690C>A	ENSP00000225964.5:p.Arg564Ser
ENST00000463440.1:n.80C>A
ENST00000471344.1:n.722C>A
ENST00000476387.1:n.39C>A
NM_000088.3:c.1690C>A , LRG_1t1:c.1690C>A	NP_000079.2:p.Arg564Ser
XM_005257058.3:c.1690C>A	XP_005257115.2:p.Arg564Ser
XM_005257059.3:c.958-1327C>A	XP_005257116.2:n.958-1327C>A
XM_011524341.1:c.1492C>A	XP_011522643.1:p.Arg498Ser
XM_005257058.4:c.1690C>A	XP_005257115.2:p.Arg564Ser
XM_005257059.4:c.958-1327C>A	XP_005257116.2:n.958-1327C>A
NM_000088.4:c.1690C>A MANE Select	NP_000079.2:p.Arg564Ser