Canonical Allele Identifier: CA400215248

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193971-A-G
• MyVariant Identifiers: chr17:g.48271332A>G (hg19) ; chr17:g.50193971A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193971A>G , CM000679.2:g.50193971A>G	GRCh38
NC_000017.10:g.48271332A>G , CM000679.1:g.48271332A>G	GRCh37
NC_000017.9:g.45626331A>G	NCBI36
NG_007400.1:g.12669T>C , LRG_1:g.12669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1739T>C MANE Select	ENSP00000225964.6:p.Met580Thr
ENST00000225964.9:c.1739T>C	ENSP00000225964.5:p.Met580Thr
ENST00000463440.1:n.129T>C
ENST00000471344.1:n.771T>C
ENST00000476387.1:n.88T>C
NM_000088.3:c.1739T>C , LRG_1t1:c.1739T>C	NP_000079.2:p.Met580Thr
XM_005257058.3:c.1739T>C	XP_005257115.2:p.Met580Thr
XM_005257059.3:c.958-1278T>C	XP_005257116.2:n.958-1278T>C
XM_011524341.1:c.1541T>C	XP_011522643.1:p.Met514Thr
XM_005257058.4:c.1739T>C	XP_005257115.2:p.Met580Thr
XM_005257059.4:c.958-1278T>C	XP_005257116.2:n.958-1278T>C
NM_000088.4:c.1739T>C MANE Select	NP_000079.2:p.Met580Thr