Canonical Allele Identifier: CA2576317581
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194068A>G , CM000679.2:g.50194068A>G GRCh38
NC_000017.10:g.48271429A>G , CM000679.1:g.48271429A>G GRCh37
NC_000017.9:g.45626428A>G NCBI36
NG_007400.1:g.12572T>C , LRG_1:g.12572T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1669-27T>C MANE Select ENSP00000225964.6:n.1669-27T>C
ENST00000225964.9:c.1669-27T>C ENSP00000225964.5:n.1669-27T>C
ENST00000463440.1:n.59-27T>C
ENST00000471344.1:n.674T>C
NM_000088.3:c.1669-27T>C , LRG_1t1:c.1669-27T>C NP_000079.2:n.1669-27T>C
XM_005257058.3:c.1669-27T>C XP_005257115.2:n.1669-27T>C
XM_005257059.3:c.958-1375T>C XP_005257116.2:n.958-1375T>C
XM_011524341.1:c.1471-27T>C XP_011522643.1:n.1471-27T>C
XM_005257058.4:c.1669-27T>C XP_005257115.2:n.1669-27T>C
XM_005257059.4:c.958-1375T>C XP_005257116.2:n.958-1375T>C
NM_000088.4:c.1669-27T>C MANE Select NP_000079.2:n.1669-27T>C
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