Canonical Allele Identifier: CA8645170

Gene: COL1A1

Linked Data

• dbSNP Id: rs762735808
• ExAC: 17:48271537 G / A
• gnomAD v2: 17-48271537-G-A
• MyVariant Identifiers: chr17:g.48271537G>A (hg19) ; chr17:g.50194176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194176G>A , CM000679.2:g.50194176G>A	GRCh38
NC_000017.10:g.48271537G>A , CM000679.1:g.48271537G>A	GRCh37
NC_000017.9:g.45626536G>A	NCBI36
NG_007400.1:g.12464C>T , LRG_1:g.12464C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1622C>T MANE Select	ENSP00000225964.6:p.Thr541Ile
ENST00000225964.9:c.1622C>T	ENSP00000225964.5:p.Thr541Ile
ENST00000463440.1:n.12C>T
ENST00000471344.1:n.566C>T
NM_000088.3:c.1622C>T , LRG_1t1:c.1622C>T	NP_000079.2:p.Thr541Ile
XM_005257058.3:c.1622C>T	XP_005257115.2:p.Thr541Ile
XM_005257059.3:c.958-1483C>T	XP_005257116.2:n.958-1483C>T
XM_011524341.1:c.1424C>T	XP_011522643.1:p.Thr475Ile
XM_005257058.4:c.1622C>T	XP_005257115.2:p.Thr541Ile
XM_005257059.4:c.958-1483C>T	XP_005257116.2:n.958-1483C>T
NM_000088.4:c.1622C>T MANE Select	NP_000079.2:p.Thr541Ile